Abnormality of the skeletal system, and Short metacarpal

Diseases related with Abnormality of the skeletal system and Short metacarpal

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


Top matches:

Low 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 EXOSTOSES, MULTIPLE, TYPE II


Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.

EXOSTOSES, MULTIPLE, TYPE II Is also known as ext2

Related symptoms:

  • Short stature
  • Genu valgum
  • Short metacarpal
  • Coxa vara
  • Exostoses


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE II

Low match METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH


METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|chhv|cartilage-hair hypoplasia variant, skeletal manifestations only

Related symptoms:

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH

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 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3


Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Fatigue
  • Myopathy


SOURCES: OMIM MESH MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Short metacarpal

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
Abnormality of the ankles Rare - less than 30% cases
Abnormality of pelvic girdle bone morphology Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Short metacarpal. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Symphalangism affecting the phalanges of the hand Synostosis of carpal bones Finger syndactyly Short middle phalanx of the 2nd finger Short middle phalanx of the 5th finger Short 1st metacarpal Tarsal synostosis Short phalanx of finger Osteoarthritis Short middle phalanx of finger Cognitive impairment Scoliosis Short fifth metatarsal Short proximal phalanx of finger Cutaneous syndactyly of toes Short 5th metacarpal Oligodactyly Small epiphyses Hallux valgus Toe syndactyly Cutaneous syndactyly Neurological speech impairment Camptodactyly Syndactyly Progressive fusion 2nd-5th pip joints Synostosis of carpals/tarsals Proximal symphalangism of hands Irregular epiphyses Proximal symphalangism Distal symphalangism of hands Knee pain Joint stiffness Short thumb Hip dislocation Multiple epiphyseal dysplasia Waddling gait Lower limb muscle weakness Epiphyseal dysplasia Mild short stature Limb muscle weakness Proximal muscle weakness Mildly elevated creatine phosphokinase Difficulty walking Delayed epiphyseal ossification Elevated serum creatine phosphokinase Myopathy Easy fatigability Fatigue Pain Muscle weakness Abnormally shaped carpal bones Humeroradial synostosis Acromesomelia Severe short-limb dwarfism Patellar dislocation Elbow dislocation Bilateral single transverse palmar creases Cuboidal metacarpal Abnormality of the hand Carpal synostosis Short middle phalanx of the 4th finger Chondrosarcoma Exostoses Coxa vara Genu valgum 2nd-5th toe middle phalangeal hypoplasia Type B brachydactyly Absent fingernail Broad hallux phalanx Short foot Short middle phalanx of the 3rd finger Fibular hypoplasia Cervical myelopathy Bilateral talipes equinovarus Talipes equinovarus Hypertensive retinopathy Proportionate short stature Cone-shaped epiphysis Stroke Retinopathy Hypertension Short metatarsal Oligodontia Delayed eruption of teeth Multiple exostoses Pelvic bone exostoses Ankylosis Metaphyseal irregularity Short finger Radial deviation of finger Cubitus valgus Clinodactyly Hearing impairment Metaphyseal cupping of metacarpals Cone-shaped epiphyses of the phalanges of the hand Abnormality of the immune system Abnormality of the vertebral column Metaphyseal dysplasia Genu varum Rib exostoses Short long bone Abnormality of the hair Micromelia Hypotrichosis Joint laxity Severe short stature Immunodeficiency Protuberances at ends of long bones Madelung-like forearm deformities Scapular exostoses Peripheral nerve compression Abnormality of the hip joint



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