| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Femoral hypoplasia - unusual facies syndrome |
Is a |
False |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Multiple malformation syndrome with facial-limb defects as major feature |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Levy-Hollister syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Nievergelt's syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Adams-Oliver syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Popliteal pterygium syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Limb reduction-ichthyosis syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Aase syndrome |
Is a |
False |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Grebe syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Escobar syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Polysyndactyly syndrome |
Is a |
False |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Radial aplasia-thrombocytopenia syndrome |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Popliteal web syndrome |
Is a |
False |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| RAPADILINO syndrome (disorder) |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Ophthalmo-acromelic syndrome (disorder) |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Acropectororenal dysplasia |
Is a |
False |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Is a |
False |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis fibular aplasia syndrome (disorder) |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Triphalangeal thumb and dislocation of patella syndrome (disorder) |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| Microcephalus, digital anomaly, intellectual disability syndrome |
Is a |
False |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
| X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance. |
Is a |
True |
Multiple malformation syndrome with limb defect as major feature |
Inferred relationship |
Some |
|
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