Phenotype #0000325658

Individual ID 00435469
Associated disease skeletal dysplasia
Diagnosis/Initial Rhizomelia and bilateral clinodactyly
Diagnosis/Definite RLSDF
Phenotype details birth weight 2990 g; length 70 cm (0.11th, Z -3.07), OFC 46 cm (54th, Z 0.10); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; short fifth digit; short broad toes; thick, arched, eyebrows, a thin upper lip, long philtrum; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; hemagioma right breast
Inheritance Familial, autosomal recessive
Age/Examination 16m
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 2023-07-31 14:44:28 +02:00 (CEST)
Date last edited N/A

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