| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Trichorhinophalangeal syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Townes syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ruvalcaba syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Nager syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Oculodentodigital syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ectrodactyly-ectodermal dysplasia-clefting syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Mietens syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Roberts-SC phocomelia syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| FG syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Oral-facial-digital syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Hay-Wells syndrome of ectodermal dysplasia |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Larsen syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Miller syndrome |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Stickler syndrome |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Shprintzen syndrome |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia). |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Carpenter Waziri syndrome |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Smith Fineman Myers syndrome |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| An extremely rare polymalformative syndrome. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acromegaloid facial appearance syndrome (disorder) |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. |
Is a |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
Is a |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]