Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Pachydermoperiostosis of nail |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Embryonic cyst of ovary |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dumbbell ossification of centrum of sacral vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hyperphosphatasia-osteoectasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thoracic hemivertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital polyp of ureter |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolation of right common carotid artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital bowing of tibia, fibula and femur |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Familial absence of villi |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital iris ectropion (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Right ventricular outflow tract obstruction due to septoparietal trabeculation (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of calcaneus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Vomero-premaxillary faciosynostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Osteogenesis imperfecta, recessive perinatal lethal |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia with hair-tooth-nail-sweating defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Posteromedial muscle band |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Omphalocele - irreducible |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital lobar emphysema |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital lobar emphysema |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Splenoportal vascular anomaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Acrodysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare developmental defect with characteristics of an anomalous connection of bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete ossification of squamosal bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital disorders of eye and eyelid movements |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral congenital absence of feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital bronchomalacia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Right ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Achondrogenesis, type IA |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
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). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Thoracic myelocystocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Metaphyseal anadysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Temporo-auro-mandibular dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Generalized dystrophic epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Preductal coarctation of aorta |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cranial duplication |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital pelvic obliquity (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Retinal arteriovenous malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Right ventricular outflow tract obstruction due to malaligned outlet septum (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
GM1 gangliosidosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Incomplete formation of bony cochlea |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Arteriovenous malformation of frontonasal process |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Arteriovenous malformation of frontonasal process |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Incomplete ossification of interparietal bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital uterointestinal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Neonatal cutis laxa with marfanoid phenotype |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Horseshoe kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
McCune Albright syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
McCune Albright syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
McCune Albright syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital chordee |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Zebra body myopathy (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Malrotation of colon and caecum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Dysosteosclerosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |