Disease #06885 (AMD (dysplasia, acromesomelic))

Official abbreviation AMD
Name dysplasia, acromesomelic
OMIM ID -
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 4 genes BMPR1B, GDF5, NPR2, PRKG2
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-16 18:32:07 +01:00 (CET)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00396708 Pat1 PubMed: Díaz-Gonzalez 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - AMD see paper; ..., severe short stature, adult height 130cm (Est); acromesomelia; bowed forearm; brachydactyly; broad hypoplasia hand phalanges; hyperlordosis; no talipes equinovarus; normal toes; no nail aplasia/hypoplasia; no facial dysmorphism; radiology normal skull, short pedicles, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees - BAI2, C1orf228, FAM175A, KIAA1522, MROH7, PLEKHA7, PRKG2, TTN 13 1 Johan den Dunnen
00396709 Pat2 PubMed: Díaz-Gonzalez 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - AMD see paper; ..., severe short stature; acromesomelia; mild bowed forearm; brachydactyly; hypoplasia hand phalanges; no hyperlordosis; no talipes equinovarus; toes short, broad, sandal gap; no nail aplasia/hypoplasia; triangular face, broad nasal bridge, pointed chin, synophrys, hypertelorism low set ears; hirsutism; radiology normal skull, anterior beaking vertebral bodies of thoracolumbar junction, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees - POU4F2, PRKG2, SBF1, SETD7, TET2, TMPRSS11B, TUBGCP6 7 1 Johan den Dunnen
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