Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-07-31 14:44:28 +02:00 (CEST) Date last edited N/A

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