Phenotype #0000237118

Individual ID 00311870
Associated disease RRS
Phenotype details short stature (-4.25 SD), telecanthus, hypertelorism, frontal bossing, prominent eyes, anteverted nares, wide depressed nasal bridge, midface hypoplasia, smooth philtrum, wide mouth, bilobed tongue, gingival hyperplasia, microretrognatia, low-set ears; mesomelic limb shortening and fingers, toes very broad and short, nails dysplastic; surgery to remove Y-shaped duplication bilateral thumbs and great toes; buried penis, cryptorchidism, sacral dimple; radiography hemivertebrae (T6, T7, T13); early motor milestones delayed, present cognitive development normal
Diagnosis/Initial Robinow syndrome
Inheritance Familial, autosomal dominant
Diagnosis/Definite DRS1
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-09-29 16:10:21 +02:00 (CEST)
Date last edited 2020-09-29 19:51:52 +02:00 (CEST)

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