Phenotype #0000238558

Individual ID 00314760
Associated disease ?
Diagnosis/Initial Weyers acrodental dysostosis
Diagnosis/Definite -
Phenotype details height 165 cm (-1.61 SD), weight 97 kg (+1.74 SD), OFC 57 cm (+1.32 SD); no congenital heart abnormalities, but present in affected offspring proband; bilateral postaxial polydactyly hands; bilateral postaxial polydactyly feet; brachydactyly; long trunk; no narrow thorax, but present in affected offspring proband; no upper/lower limb shortening, (arm span 162 cm, but present in affected offspring proband; genu valgum; congenitally missing upper lateral incisors bilateral and lower right lateral incisor, diastema; no nail dysplasia, but present in affected offspring of proband; long face, mid face hypoplasia, short philtrum, overhanging nasal tip; multiple frenula or abnormal gum-lip attachment, multiple upper and lower lingual frenula, hypoplastic maxilla with cross bite; no intellectual disability; 33y-no neoplastic lesions; two offspring with postaxial polydactyly of both hands, short limbs, and congenital heart septal defects; both died early after birth; an 33w-intrauterine fetal death with bilateral postaxial polydactyly and congenital heart disease and a fetus with similar manifestations
Inheritance Isolated (sporadic)
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-10-18 10:14:51 +02:00 (CEST)
Date last edited N/A

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