Phenotype #0000325655

Individual ID	00435466
Associated disease	skeletal dysplasia
Diagnosis/Initial	Rhizomelia and facial dysmorphism (Robinow and Frank-Ter Haar syndromes considered)
Diagnosis/Definite	RLSDF
Phenotype details	birth weight 2.3 kg; length 2-9th (but mid-parental height on 50th); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; normal developmental milestones; slightly broad halluces; prominent eyes, high/broad nasal bridge, mild hypertelorism, thick eyebrows, long lashes, subtly coarse facial appearance, wide neck, minor neck webbing, low posterior hairline; sloping shoulders; mild micrognathia; short humeri noted in skeletal survey, mild bilateral coxa valga deformity; no hearing loss; myopia (-2D), previous surgery for blocked lachrymal ducts
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-07-31 14:44:28 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD