Phenotype #0000299040

Individual ID	00406565
Associated disease	RRS
Phenotype details	see paper; ..., acromesomelic short stature, scoliosis, height 132 cm (<3rd centile), weight 32 kg (<3rd centile), OFC 52 cm (<3rd centile), relative macrocephaly, hypertelorism, depressed nasal bridge, bulbous nasal tip, large mouth, short uvula; brachydactyly, aplasia middle phalanx, shortening distal phalanx fifth fingers bilaterally; toe nail dystrophy, fifth fingernail aplasia; forearm supination, pronation restricted.; phalangeal anomalies, acromesomelia, hand length 11.5 cm (<3rd centile)], scoliosis with thoracolumbar vertebral anomalies; bilateral distal ulnar hypoplasia, radioulnar dislocation; normal renal ultrasound; ECG normal
Diagnosis/Initial	Robinow syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RRS1
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-01 14:05:44 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD