Phenotype #0000289869

Individual ID 00396708
Associated disease AMD
Diagnosis/Initial acromesomelic dysplasia
Diagnosis/Definite AMD4
Phenotype details 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
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-12-16 19:06:16 +01:00 (CET)
Date last edited N/A

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