In the following list you will find some of the most common rare diseases related to Brachydactyly and Camptodactyly that can help you solving undiagnosed cases.
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
Related symptoms:
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about SYNDACTYLY TYPE 5Brachydactyly-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.
Related symptoms:
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPEBrachydactyly-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
Related symptoms:
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROMEProximal 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
Related symptoms:
SOURCES: OMIM ORPHANET MENDELIAN
More info about PROXIMAL SYMPHALANGISMSynpolydactyly (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.
SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type
Related symptoms:
SOURCES: ORPHANET OMIM MENDELIAN
More info about SYNPOLYDACTYLY TYPE 1Regressive 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
Related symptoms:
SOURCES: OMIM ORPHANET MENDELIAN
More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIATibial 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
Related symptoms:
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about TIBIAL APLASIA-ECTRODACTYLY 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
Related symptoms:
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about ADULT SYNDROMETerminal 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
Related symptoms:
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROMESymptoms // Phenotype | % cases |
---|---|
Syndactyly | Common - Between 50% and 80% cases |
Finger syndactyly | Uncommon - Between 30% and 50% cases |
Clinodactyly of the 5th finger | Uncommon - Between 30% and 50% cases |
Camptodactyly of finger | Uncommon - Between 30% and 50% cases |
Abnormality of the foot | Uncommon - Between 30% and 50% cases |
Patients with Brachydactyly and Camptodactyly. may also develop some of the following symptoms:
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