Phenotype #0000309867

Individual ID 00418531
Associated disease PSACH
Phenotype details no hypotonia; normal developmental milestones; normal groth/feeding; height 121 cm (-2.5 SD); rhizomelic shortening upper and lower extremities; OFC 56cm; no kyphosis; short, broad fingers; no acromelia; short broad toes; broad nasal bridge, thick eyebrows, synophrys, prominent chin; no cranial anomalies; normal palate; platyspondyly; metaphyseal changes; short metacarp and metatarsal, disostosis peripheral; 9y-no delayed bone age; constipation, umbilical hernia in the past (now normal), hypertrichosis
Diagnosis/Initial pseudoachondroplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset short stature, dysmorphism
Protein -
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 2022-09-29 19:58:49 +02:00 (CEST)
Date last edited N/A

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