Brachydactyly, and Clinodactyly of the 5th finger

Diseases related with Brachydactyly and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Brachydactyly and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium 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

Medium match BRACHYDACTYLY TYPE A2


Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

BRACHYDACTYLY TYPE A2 Is also known as brachydactyly, mohr-wriedt type|brachymesophalangy ii|mohr-wriedt type brachydactyly

Related symptoms:

  • Short stature
  • Brachydactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Short foot


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BRACHYDACTYLY TYPE A2

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Other less relevant matches:

Medium 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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Medium 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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

Medium 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

Medium match ACROFACIAL DYSOSTOSIS, WEYERS TYPE


Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Medium match LÉRI-WEILL DYSCHONDROSTEOSIS


Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).

LÉRI-WEILL DYSCHONDROSTEOSIS Is also known as lÉri-weill syndrome

Related symptoms:

  • Depressed nasal bridge
  • Brachydactyly
  • Wide nasal bridge
  • Clinodactyly of the 5th finger
  • Joint stiffness


SOURCES: ORPHANET MENDELIAN

More info about LÉRI-WEILL DYSCHONDROSTEOSIS

Medium match BRACHYDACTYLY TYPE A1


Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

BRACHYDACTYLY TYPE A1 Is also known as farabee-type brachydactyly|brachydactyly, farabee type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE A1

Medium match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Top 5 symptoms//phenotypes associated to Brachydactyly and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Elbow dislocation Uncommon - Between 30% and 50% cases
Short palm 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 Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short distal phalanx of finger Finger clinodactyly Syndactyly Short middle phalanx of the 5th finger

Rare Symptoms - Less than 30% cases


Abnormality of the humerus Short middle phalanx of finger Patellar aplasia Short hallux Radial deviation of the 2nd finger Hypoplasia of the radius Postaxial foot polydactyly Cone-shaped epiphysis Hypoplasia of the ulna Postaxial polydactyly Polydactyly Abnormality of the ulna Mesomelia Short metacarpal Talipes equinovarus Camptodactyly Joint stiffness Abnormality of the fingernails Intellectual disability Abnormality of the carpal bones Synostosis of carpal bones Finger syndactyly Broad hallux Abnormality of the foot 4-5 toe syndactyly Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 2-3 toe syndactyly Carpal synostosis 3-4 finger syndactyly Short proximal phalanx of thumb Short 2nd finger Absent distal interphalangeal creases Camptodactyly of finger Thoracic dysplasia Short tibia Radial bowing Hypoplastic fingernail Exostoses Overlapping fingers Abnormality of femur morphology Conical tooth Abnormality of the hip bone Abnormal toenail morphology Abnormality of epiphysis morphology Advanced eruption of teeth Tibial bowing Abnormality of the metaphysis Toenail dysplasia Single median maxillary incisor Abnormal oral frenulum morphology Prominent antihelix Depressed nasal bridge Abnormality of pelvic girdle bone morphology Wide nasal bridge Genu varum Genu valgum Micromelia Disproportionate short-limb short stature Delayed speech and language development Scoliosis Abnormality of tibia morphology Abnormal facial shape Proportionate shortening of all digits Thin proximal phalanges with broad epiphyses of the hand Global developmental delay Microcephaly Growth delay Micrognathia Intrauterine growth retardation Radial deviation of the 3rd finger Intellectual disability, mild Delayed skeletal maturation Upslanted palpebral fissure Convex nasal ridge Abnormality of the ribs Radioulnar synostosis Cortical gyral simplification Broad metacarpal epiphyses Radial deviation of the 4th finger Diaphyseal thickening Facial cleft Ulnar bowing Aplastic/hypoplastic toenail Madelung deformity Abnormality of the radius Abnormality of calvarial morphology Limited wrist movement Dorsal subluxation of ulna Short thumb Type A1 brachydactyly Broad palm Ankylosis Distal symphalangism of hands Broad metacarpals Short proximal phalanx of hallux Slender metacarpals Flattened metatarsal heads Abnormality of the antihelix Mesoaxial hand polydactyly Mild short stature Bracket epiphysis of the middle phalanx of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 5th finger Short 2nd metacarpal Triangular shaped middle phalanx of the 2nd finger Type A2 brachydactyly Medially deviated second toe Triangular shaped middle phalanx of the 5th finger Bracket epiphysis of the middle phalanx of the 5th finger Ulnar deviation of the 2nd finger Macrocephaly Elbow flexion contracture Metaphyseal widening Aplasia/Hypoplasia of the radius Ridged nail Joint contracture of the 5th finger Aplasia/Hypoplasia of the middle phalanges of the toes Short 1st metacarpal 2-3 finger syndactyly Joint contracture of the hand Arachnodactyly Short proximal phalanx of finger Short distal phalanx of the thumb Poor motor coordination Short distal phalanx of the 2nd finger Interphalangeal joint contracture of finger Cutaneous finger syndactyly Hallux valgus Ulnar deviation of finger Metacarpal synostosis 3-4 toe syndactyly Metatarsal synostosis Fused fourth and fifth metacarpals Enlarged proximal interphalangeal joints Deviation of toes Abnormality of the distal phalanx of finger Long metacarpals Hypoplastic toenails Anal atresia 2nd-5th toe middle phalangeal hypoplasia Seizures Abnormality of the dentition Severe short stature Protruding ear Nail dystrophy Small hand Y-shaped metacarpals Hypodontia Nail dysplasia Limb undergrowth Postaxial hand polydactyly Hypotelorism Small nail 6 metacarpals Contracture of the proximal interphalangeal joint of the 5th finger Radially deviated wrists Elbow ankylosis Strabismus Sensorineural hearing impairment Pes planus Abnormality of the metacarpal bones Tarsal synostosis Abnormality of the wrist Proximal symphalangism Hallux varus Abnormal finger flexion creases Proximal/middle symphalangism of 5th finger Metacarpophalangeal synostosis Short phalanx of finger Abnormality of the hand Preaxial foot polydactyly Aplasia of the middle phalanx of the hand Dislocated radial head



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