Phenotype #0000228746

Individual ID 00301646
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Larsen of Reunion Island syndrome
Age/Examination 21y (21 years)
Diagnosis/Definite EDSSPD1
Age/Onset -
Phenotype/Onset -
Phenotype details birth length 38 cm, adult height 121 cm, BMI 17; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, patella, bilateral wrist, right shoulder; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no Genu recurvatum
Hearing/Loss -
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Francois Cartault
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-20 08:16:52 +02:00 (CEST)
Date last edited N/A

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