Brachydactyly, and Short foot

Diseases related with Brachydactyly and Short foot

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


Top matches:

Medium 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

Medium 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

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 SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 Is also known as asphyxiating thoracic dystrophy 2|atd2

Related symptoms:

  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly
  • Cleft lip
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2

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 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

Medium 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

Medium match JEUNE SYNDROME


Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn|jatd|jeune asphyxiating thoracic dystrophy

Related symptoms:

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about JEUNE SYNDROME

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 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Top 5 symptoms//phenotypes associated to Brachydactyly and Short foot

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Short metacarpal Uncommon - Between 30% and 50% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly of the 5th finger Short middle phalanx of finger Growth delay Finger syndactyly Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Short 1st metacarpal Postaxial polydactyly Short hallux Short middle phalanx of the 5th finger Broad hallux Syndactyly Radial deviation of the 2nd finger Clinodactyly Aplasia/Hypoplasia of the middle phalanges of the toes Cleft lip Postaxial foot polydactyly Oral cleft Postaxial hand polydactyly Limb undergrowth Cone-shaped epiphysis Synostosis of carpal bones Thoracic dysplasia Symphalangism affecting the phalanges of the hand Absent fingernail Type B brachydactyly 2nd-5th toe middle phalangeal hypoplasia Short palm Talipes equinovarus Distal symphalangism of hands Carpal synostosis Broad palm Short toe Toe syndactyly Short ribs Rhizomelia Abnormality of the sternum Aplasia/Hypoplasia of the lungs Nephronophthisis Short thorax Abnormality of the liver Abnormality of pelvic girdle bone morphology Distal symphalangism Cutaneous syndactyly of toes Aplasia/Hypoplasia of the middle phalanges of the hand Aplasia/Hypoplasia of the distal phalanges of the toes Proximal symphalangism Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Proximal symphalangism of hands Short distal phalanx of toe Abnormality of retinal pigmentation Absent phalangeal crease Renal insufficiency Skeletal dysplasia Feeding difficulties in infancy Micromelia Nephropathy Abnormality of the ribs Abnormality of the metaphysis Abnormality of the clavicle Ankylosis Intellectual disability Hypertension Short iliac bones Pes valgus Elevated serum creatinine Glomerulonephritis Metaphyseal widening Renal hypoplasia Full cheeks Stage 5 chronic kidney disease Respiratory tract infection Proteinuria Thin upper lip vermilion Inguinal hernia Respiratory distress Myopia Cataract Scoliosis Short proximal phalanx of hallux Short thumb Hypoplasia of the ulna Tarsal synostosis Broad metacarpals Absent distal interphalangeal creases Short proximal phalanx of thumb Slender metacarpals Thin proximal phalanges with broad epiphyses of the hand Flattened metatarsal heads Type A1 brachydactyly Radial deviation of the 4th finger Radial deviation of the 3rd finger Broad metacarpal epiphyses Proportionate shortening of all digits Cutaneous finger syndactyly 6 metacarpals Proximal placement of thumb Postaxial oligodactyly Bracket epiphysis of the middle phalanx of the 2nd finger Triangular shaped middle phalanx of the 5th finger Medially deviated second toe Type A2 brachydactyly Triangular shaped middle phalanx of the 2nd finger Short 2nd metacarpal Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Ulnar deviation of the 2nd finger Short 2nd finger Hallux valgus 2-3 toe syndactyly Unilateral ulnar hypoplasia Aplasia/Hypoplasia of the fibula Mesomelia Aplasia/Hypoplasia of the ulna Lower limb asymmetry Short 5th finger Fibular hypoplasia Bilateral talipes equinovarus Hemangioma Round face Prominent forehead Midface retrusion Malar flattening Atrial septal defect Frontal bossing Broad hallux phalanx Bracket epiphysis of the middle phalanx of the 5th finger Spinal cord compression Cutaneous syndactyly Abnormal facial shape Hypermetropia Sensorineural hearing impairment Coronal craniosynostosis Patellar dislocation Joint dislocation Flat face Genu valgum High forehead Proptosis Narrow mouth Short nose Wide nasal bridge Cleft palate Micrognathia Atlantoaxial instability Hearing impairment Y-shaped metacarpals Contracture of the proximal interphalangeal joint of the 5th finger Mesoaxial hand polydactyly 4-5 toe syndactyly 3-4 finger syndactyly Hallux varus Aplasia of the middle phalanx of the hand Preaxial foot polydactyly Abnormality of the hand Finger clinodactyly Short phalanx of finger Abnormality of the foot Camptodactyly Chronic tubulointerstitial nephritis



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