Abnormality of the skeletal system, and Short foot

Diseases related with Abnormality of the skeletal system and Short foot

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4


Related symptoms:

  • Intellectual disability
  • Intellectual disability, severe
  • Syndactyly
  • Midface retrusion
  • Short foot


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Intellectual disability, severe
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3

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

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Other less relevant matches:

Low match NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS


NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT ) (summary by Yoo et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Macrocephaly
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS

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 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 EIKEN SYNDROME


Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.

EIKEN SYNDROME Is also known as bone modeling defect of hands and feet|eiken skeletal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Severe short stature
  • Skeletal dysplasia
  • Arthralgia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EIKEN SYNDROME

Low 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

Low match SHOX-RELATED SHORT STATURE


SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • High palate
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHOX-RELATED SHORT STATURE

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Short toe Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short 5th finger Syndactyly

Rare Symptoms - Less than 30% cases


Postaxial polydactyly Broad palm Intellectual disability, severe Short palm Short phalanx of finger Broad hallux Short middle phalanx of finger Clinodactyly of the 5th finger Clinodactyly Cubitus valgus Fibular hypoplasia Short middle phalanx of the 5th finger Polydactyly Seizures Exotropia Short metacarpal Short chin Alternating exotropia Short distal phalanx of finger Finger syndactyly 2nd-5th toe middle phalangeal hypoplasia Genu valgum Broad foot Metaphyseal irregularity Madelung deformity Lower limb undergrowth Forearm undergrowth Epiphyseal dysplasia Episodic ketoacidosis Skeletal dysplasia Arthralgia Thin bony cortex Severe short stature Atlantoaxial instability Thoracic dysplasia Spinal cord compression Mesomelia Short ribs Rhizomelia Postaxial hand polydactyly Limb undergrowth Oral cleft Delayed epiphyseal ossification Narrow pelvis bone Tibial bowing Preaxial foot polydactyly Short neck High palate Micrognathia Scoliosis 6 metacarpals 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 Postaxial foot polydactyly Obesity Abnormality of the hand Finger clinodactyly Abnormality of the foot Narrow chest Skeletal muscle hypertrophy Abnormal trabecular bone morphology Abnormality of the fingertips Limited elbow flexion High iliac wings Abnormality of the acetabulum Limited hip movement Absence of the sacrum Abnormal bone ossification Camptodactyly Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Cleft lip Developmental regression Growth delay Breathing dysregulation Developmental stagnation Bruxism Hyperventilation Agitation Self-injurious behavior Abnormal autonomic nervous system physiology Sleep disturbance Small hand Inability to walk Generalized tonic-clonic seizures Apnea Talipes equinovarus Dystonia Ventriculomegaly Dysphagia Gait disturbance Macrocephaly Microcephaly Type B brachydactyly Absent fingernail Symphalangism affecting the phalanges of the hand Broad hallux phalanx Synostosis of carpal bones Autistic behavior Frontal bossing Atrial septal defect Respiratory insufficiency Short 1st metacarpal Bracket epiphysis of the middle phalanx of the 5th finger 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 phalanges of the toes Radial deviation of the 2nd finger Ulnar deviation of the 2nd finger Short 2nd finger Short hallux Malar flattening Hallux valgus 2-3 toe syndactyly Unilateral ulnar hypoplasia Postaxial oligodactyly Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia of the ulna Lower limb asymmetry Bilateral talipes equinovarus Hemangioma Round face Toe syndactyly Prominent forehead Ulnar radial head dislocation



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