Brachydactyly, and Camptodactyly

Low match SYNDACTYLY TYPE 5

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

• Brachydactyly
• Syndactyly
• Clinodactyly of the 5th finger
• Camptodactyly of finger
• Abnormality of the foot

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

• Brachydactyly
• Syndactyly
• Camptodactyly
• Finger syndactyly
• Toe syndactyly

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

• Brachydactyly
• Macrocephaly
• Talipes equinovarus
• Clinodactyly of the 5th finger
• Camptodactyly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match PROXIMAL SYMPHALANGISM

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

• Strabismus
• Sensorineural hearing impairment
• Brachydactyly
• Clinodactyly of the 5th finger
• Pes planus

SOURCES: OMIM ORPHANET MENDELIAN

Low match SYNPOLYDACTYLY TYPE 1

Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type

• Brachydactyly
• Syndactyly
• Clinodactyly
• Clinodactyly of the 5th finger
• Polydactyly

SOURCES: ORPHANET OMIM MENDELIAN

Low match REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

• Global developmental delay
• Short stature
• Microcephaly
• Flexion contracture
• Brachydactyly

SOURCES: OMIM ORPHANET MENDELIAN

Low match TIBIAL APLASIA-ECTRODACTYLY SYNDROME

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|tibial hemimelia with split hand/foot malformation|shfm associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|cle

• Brachydactyly
• Talipes equinovarus
• Syndactyly
• Camptodactyly
• Finger syndactyly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

• Pes cavus
• Thin upper lip vermilion
• Camptodactyly of finger
• Single transverse palmar crease
• Tall stature

SOURCES: OMIM MENDELIAN

Low match ADULT SYNDROME

ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) 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.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

• Brachydactyly
• Wide nasal bridge
• Abnormality of the dentition
• Syndactyly
• Midface retrusion

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

• Hypertelorism
• Cleft palate
• Ptosis
• Low-set ears
• Flexion contracture

SOURCES: ORPHANET MESH OMIM MENDELIAN