Phenotype #0000310499

Individual ID	00419212
Associated disease	CFSMR
Phenotype details	see paper; ..., birth weight was 2.5kg (−1.9SD), polyhydramnios; delayed development, not able to sit alone, could partially hold his neck, delayed speech and language development; hypotonia, facial dysmorphism (brachycephaly, prominent forehead with hirsutism, frontal upsweep, blue sclera, hypertelorism, long eyelashes and bushy, highly arched eyebrows with synophrys, wide nasal bridge, short nasal ridge, short columella, long and narrow philtrum, low-set ears); pectus carinatum, widely spaced nipples; camptodactyly right 3rd and 4th fingers and left 3rd finger, bilateral clinodactyly 5th fingers, bilateral syndactyly 2nd and 3rd toes; 13m-growth parameters within the normal range, OFC 44cm (−1.81SD), length 78cm (+0.42SD), weight8.5kg (−2SD); similarly affected older male sib, similar facial dysmorphism, hydrocephalus, cleft lip and palate, 3m-died
Diagnosis/Initial	cerebro-facio-thoracic dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CFSMR1
Age/Examination	00y13m (13 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Tess Holling
Database submission license
Created by	Tess Holling
Date created	2022-10-18 14:45:55 +02:00 (CEST)
Date last edited	2024-04-10 11:43:44 +02:00 (CEST)

Global Variome shared LOVD