Phenotype #0000325657

Individual ID 00435468
Associated disease skeletal dysplasia
Diagnosis/Initial Rhizomelia and bilateral clinodactyly
Diagnosis/Definite RLSDF
Phenotype details length 87 cm (0.39th, Z -2.66), OFC 47.5 cm (8.09th, Z 1.40); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; speech delay; no kyphosis/hyperlordosis; short fifth digit; short broad toes; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; widely spaced nipples
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 years)
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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