Brachydactyly, and Short metacarpal

Diseases related with Brachydactyly and Short metacarpal

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


Top matches:

Medium match BRACHYDACTYLY, TYPE E2; BDE2


Related symptoms:

  • Short stature
  • Brachydactyly
  • Delayed eruption of teeth
  • Short metacarpal
  • Oligodontia


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE E2; BDE2

Low match BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME


Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME Is also known as bilginturan syndrome|brachydactyly type e, with short stature and hypertension|brachydactyly with hypertension|brachydactyly, type e, with short stature and hypertension|bilginturan brachydactyly

Related symptoms:

  • Short stature
  • Hypertension
  • Brachydactyly
  • Retinopathy
  • Stroke


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME

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

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Other less relevant matches:

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 TARSAL-CARPAL COALITION SYNDROME


Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Brachydactyly
  • Clinodactyly
  • Abnormality of the hand


SOURCES: ORPHANET OMIM MENDELIAN

More info about TARSAL-CARPAL COALITION 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

Low match ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE


Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

Related symptoms:

  • Scoliosis
  • Cognitive impairment
  • Brachydactyly
  • Joint stiffness
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

Low 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

Low 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

Low match SYMPHALANGISM, PROXIMAL, 1A; SYM1A


Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal SymphalangismAnother form of proximal symphalangism (SYM1B ) is caused by mutation in the GDF5 gene (OMIM ).

SYMPHALANGISM, PROXIMAL, 1A; SYM1A Is also known as cushing symphalangism|sym1|hereditary absence of the proximal interphalangeal joints

Related symptoms:

  • Short stature
  • Hearing impairment
  • Brachydactyly
  • Conductive hearing impairment
  • Abnormality of the hand


SOURCES: OMIM MENDELIAN

More info about SYMPHALANGISM, PROXIMAL, 1A; SYM1A

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Short middle phalanx of finger Uncommon - Between 30% and 50% cases
Short middle phalanx of the 5th finger Uncommon - Between 30% and 50% cases
Short 1st metacarpal Uncommon - Between 30% and 50% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short foot Tarsal synostosis

Rare Symptoms - Less than 30% cases


Synostosis of carpals/tarsals Abnormality of the hand Finger syndactyly Hearing impairment Symphalangism affecting the phalanges of the hand Ankylosis Carpal synostosis Synostosis of carpal bones Proximal symphalangism of hands Abnormality of the ankles Clinodactyly Hallux valgus Proximal symphalangism Aplasia/Hypoplasia of the middle phalanges of the toes Short phalanx of finger Distal symphalangism of hands Short 5th metacarpal Short middle phalanx of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Short 2nd finger Abnormally shaped carpal bones Clinodactyly of the 5th finger 2-3 toe syndactyly Broad hallux Short hallux Medially deviated second toe Triangular shaped middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanx of the 5th finger Radial deviation of the 2nd finger Type A2 brachydactyly Triangular shaped middle phalanx of the 2nd finger Short 2nd metacarpal Ulnar deviation of the 2nd finger Polydactyly Bracket epiphysis of the middle phalanx of the 2nd finger Mesomelia Stapes ankylosis Aplasia/Hypoplasia of the middle phalanges of the hand Dislocated radial head Abnormality of digit Conductive hearing impairment Atlantoaxial instability Thoracic dysplasia Spinal cord compression Broad palm Short ribs Bracket epiphysis of the middle phalanx of the 5th finger Rhizomelia Postaxial hand polydactyly Limb undergrowth Postaxial polydactyly Oral cleft Narrow chest Cleft lip Acromesomelia Respiratory insufficiency Cuboidal metacarpal Cutaneous syndactyly of toes Severe short-limb dwarfism Talipes equinovarus Type B brachydactyly Absent fingernail Broad hallux phalanx Short middle phalanx of the 3rd finger Short middle phalanx of the 4th finger Fibular hypoplasia Bilateral talipes equinovarus Hypertensive retinopathy Cubitus valgus Proportionate short stature Cone-shaped epiphysis Stroke Retinopathy Hypertension Short metatarsal Oligodontia Delayed eruption of teeth 2nd-5th toe middle phalangeal hypoplasia Radial deviation of finger Patellar dislocation Scoliosis Elbow dislocation Abnormality of pelvic girdle bone morphology Bilateral single transverse palmar creases Short thumb Hip dislocation Neurological speech impairment Joint stiffness Cognitive impairment Short fifth metatarsal Short finger Short proximal phalanx of finger Oligodactyly Cutaneous syndactyly Toe syndactyly Camptodactyly Syndactyly Progressive fusion 2nd-5th pip joints Humeroradial synostosis Metacarpophalangeal synostosis



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