Brachydactyly, and Syndactyly

Diseases related with Brachydactyly and Syndactyly

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


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

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 BARDET-BIEDL SYNDROME 5; BBS5


BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Syndactyly
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 5; BBS5

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Other less relevant matches:

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match FEINGOLD SYNDROME TYPE 2


Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

FEINGOLD SYNDROME TYPE 2 Is also known as brachydactyly with short stature and microcephaly|fs2|fglds2|brunner-winter syndrome type 2|brachydactyly-short stature-microcephaly syndrome|microcephaly-digital anomalies-normal intelligence syndrome type 2|microcephaly-intellectual disability-tracheoes

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FEINGOLD SYNDROME TYPE 2

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 HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, 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.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Low match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

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

Top 5 symptoms//phenotypes associated to Brachydactyly and Syndactyly

Symptoms // Phenotype % cases
Clinodactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
Short middle phalanx of finger Rare - less than 30% cases
Short proximal phalanx of finger Rare - less than 30% cases
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Other less frequent symptoms

Patients with Brachydactyly and Syndactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Toe syndactyly Cutaneous syndactyly Intellectual disability Aplasia of the middle phalanx of the hand Finger syndactyly Clinodactyly of the 5th finger Short foot Symphalangism affecting the phalanges of the hand Abnormality of the foot Short middle phalanx of the 5th finger Muscle weakness External genital hypoplasia Obesity Cognitive impairment Retinal dystrophy Polydactyly Hypogonadism Rod-cone dystrophy Limb muscle weakness Dilated cardiomyopathy Arrhythmia Myopathy Cardiomyopathy Short 5th metacarpal Flexion contracture Cutaneous syndactyly of toes Supraventricular arrhythmia Deviation of toes Enlarged proximal interphalangeal joints Short middle phalanx of the 2nd finger Fused fourth and fifth metacarpals Metatarsal synostosis 3-4 toe syndactyly Absent distal interphalangeal creases 4-5 toe syndactyly Metacarpal synostosis Upper limb muscle weakness Abnormal atrioventricular conduction Unilateral ulnar hypoplasia Round face Camptodactyly Postaxial oligodactyly Short phalanx of finger Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia of the ulna Lower limb asymmetry Short 5th finger Fibular hypoplasia Bilateral talipes equinovarus Hemangioma Hallux valgus Distal symphalangism of hands Prominent forehead Oligodactyly Carpal synostosis Midface retrusion Malar flattening Atrial septal defect Talipes equinovarus Frontal bossing Growth delay Abnormal electrophysiology of sinoatrial node origin 3-4 finger syndactyly Synostosis of carpal bones Ulnar deviation of finger Short distal phalanx of the thumb Cleft palate Severe vision loss Macular dystrophy Postaxial polydactyly Visual impairment Short distal phalanx of the 2nd finger Short proximal phalanx of thumb Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Poor motor coordination Short 2nd finger Stroke Arachnodactyly Delayed speech and language development Anosmia Renal cyst Retinal degeneration Nyctalopia Reduced visual acuity Abnormality of the dentition Blindness Low-set ears Tachycardia Cutaneous finger syndactyly Short metacarpal 2-3 toe syndactyly Joint contracture of the hand Interphalangeal joint contracture of finger Camptodactyly of finger 2nd-5th toe middle phalangeal hypoplasia Type B brachydactyly Absent fingernail Broad hallux phalanx Cryptorchidism Abnormal vertebral morphology Syncope Short thumb Intellectual disability, mild Abnormality of the skeletal system Microcephaly Hearing impairment Thromboembolic stroke Paroxysmal atrial fibrillation Ventricular extrasystoles Ventricular tachycardia Atrial fibrillation Short fifth metatarsal



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