Brachydactyly, and Short distal phalanx of finger

Diseases related with Brachydactyly and Short distal phalanx of finger

In the following list you will find some of the most common rare diseases related to Brachydactyly and Short distal phalanx of finger that can help you solving undiagnosed cases.


Top matches:

Medium match ANONYCHIA CONGENITA TOTALIS


Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (OMIM ).

ANONYCHIA CONGENITA TOTALIS Is also known as anonychia/hyponychia congenita|anonychia totalis

Related symptoms:

  • Short distal phalanx of finger
  • Anonychia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANONYCHIA CONGENITA TOTALIS

Low match BRACHYDACTYLY, TYPE D; BDD


This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [HPO:probinson]

BRACHYDACTYLY, TYPE D; BDD Is also known as stub thumb

Related symptoms:

  • Brachydactyly
  • Short distal phalanx of finger
  • Short phalanx of finger
  • Broad distal phalanx of finger
  • Broad distal phalanx of the thumb


SOURCES: OMIM MESH MENDELIAN

More info about BRACHYDACTYLY, TYPE D; BDD

Low match FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY


Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Skeletal dysplasia
  • Short distal phalanx of finger
  • Osteoarthritis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY

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Other less relevant matches:

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

Low match BRACHYDACTYLY, TYPE A1, C; BDA1C


Related symptoms:

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Short distal phalanx of finger
  • Bilateral talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, C; BDA1C

Low match BRACHYDACTYLY TYPE B


Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.

Related symptoms:

  • Finger syndactyly
  • Short distal phalanx of finger
  • Short foot
  • Short metacarpal
  • Synostosis of carpal bones


SOURCES: ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE B

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

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.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 1

Low match BRACHYDACTYLY TYPE B2


Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Syndactyly
  • Finger syndactyly
  • Hypermetropia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY TYPE B2

Top 5 symptoms//phenotypes associated to Brachydactyly and Short distal phalanx of finger

Symptoms // Phenotype % cases
Syndactyly Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
Short middle phalanx of the 5th finger Uncommon - Between 30% and 50% cases
Short phalanx of finger Uncommon - Between 30% and 50% cases
Short foot Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Symphalangism affecting the phalanges of the hand Clinodactyly of the 5th finger

Rare Symptoms - Less than 30% cases


Short 1st metacarpal Synostosis of carpal bones Short proximal phalanx of finger Clinodactyly Absent fingernail Type B brachydactyly 2nd-5th toe middle phalangeal hypoplasia Cutaneous syndactyly of toes Abnormality of the foot Cutaneous syndactyly Camptodactyly 4-5 toe syndactyly 3-4 finger syndactyly Carpal synostosis Short stature Cutaneous finger syndactyly Short middle phalanx of finger Short distal phalanx of toe Short middle phalanx of the 2nd finger Short 5th metacarpal Hallux valgus Short fifth metatarsal Toe syndactyly Polydactyly Oligodactyly Short palm Postaxial polydactyly Aplasia of the middle phalanx of the hand Finger clinodactyly Proximal placement of thumb Aplasia/Hypoplasia of the middle phalanges of the toes Distal symphalangism Proximal symphalangism of hands Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nails Proximal symphalangism Aplasia/Hypoplasia of the distal phalanges of the toes Distal symphalangism of hands Aplasia/Hypoplasia of the middle phalanges of the hand Tarsal synostosis Short toe Abnormality of the hand Hypermetropia Sensorineural hearing impairment 6 metacarpals Y-shaped metacarpals Contracture of the proximal interphalangeal joint of the 5th finger Mesoaxial hand polydactyly Hallux varus Enlarged proximal interphalangeal joints Preaxial foot polydactyly Postaxial foot polydactyly Broad hallux Deviation of toes Interphalangeal joint contracture of finger Fused fourth and fifth metacarpals Arthropathy Arachnodactyly Delayed speech and language development Shortening of all middle phalanges of the toes Brachytelomesophalangy Shortening of all distal phalanges of the toes Osteoarthritis of the small joints of the hand Short middle phalanx of toe Disproportionate short stature Short distal phalanx of the thumb Radial deviation of finger Osteoarthritis Skeletal dysplasia Broad distal phalanx of the hallux Type D brachydactyly Broad distal phalanx of the thumb Broad distal phalanx of finger Short 2nd finger Poor motor coordination Metatarsal synostosis Camptodactyly of finger 3-4 toe syndactyly Absent distal interphalangeal creases Metacarpal synostosis Ulnar deviation of finger 2-3 toe syndactyly Joint contracture of the hand Anonychia Broad hallux phalanx Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Short metacarpal Short middle phalanx of the 3rd finger Short middle phalanx of the 4th finger Fibular hypoplasia Bilateral talipes equinovarus Talipes equinovarus Short distal phalanx of the 2nd finger Short proximal phalanx of thumb Absent phalangeal crease



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