Abnormality of the skeletal system, and Short foot

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4

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

SOURCES: MESH OMIM MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3

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

SOURCES: MESH OMIM MENDELIAN

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.

• Finger syndactyly
• Short distal phalanx of finger
• Short foot
• Short metacarpal
• Synostosis of carpal bones

SOURCES: ORPHANET MENDELIAN

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).

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

SOURCES: OMIM MENDELIAN

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

• Short stature
• Growth delay
• Brachydactyly
• Frontal bossing
• Talipes equinovarus

SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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

• Brachydactyly
• Syndactyly
• Clinodactyly
• Clinodactyly of the 5th finger
• Polydactyly

SOURCES: ORPHANET OMIM MENDELIAN

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.

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

SOURCES: ORPHANET MESH OMIM MENDELIAN