Phenotype #0000357118

Individual ID 00472315
Associated disease FTHS
Phenotype details see paper; ..., no motor retardation; acne; coarse face, thick skin; gingival enlargement; prominent forehead; brachycephaly; hypertelorism; full cheeks; anteverted nostrils; broad mouth; micrognathia; protruding ears; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; bowing long bones; short hands; flexion deformity; no club feet; cortical erosions; osteoporosis; osteolytic lesions; arthropathy; irregular tongue; inguinal hernia; genu recurvatum
Diagnosis/Initial Borrone Dermato-Cardio-Skeletal syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite FTHS
Age/Examination 36y (36 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 2026-01-31 12:48:28 +01:00 (CET)
Date last edited N/A

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