Phenotype #0000021996

Individual ID 00025926
Associated disease HPMRS1;GPIBD2
Phenotype details Elder sister was hypotonic at birth and had a round face, downturned mouth, and thickened helices. She developed tonic-clonic seizures at age 8 weeks. Renal ultrasound study showed unilateral hydronephrosis. She had an anteriorly placed anus and constipation, but a rectal biopsy showed normal innervation. Development was delayed and at the age 4 years. Long palpebral fissures, a prominent nasal bridge, simple cupped ears with thickened helices, and a tented upper lip with downturned corners of the mouth were observed. Brachytelephalangy was present with hypoplastic nails, especially on thumbs and little fingers. She developed a mild scoliosis. Her brother developed seizures after birth. He had Hirschsprung disease. He had simple cupped ears with thickened helices, a tented upper lip with downturned corners of the mouth, a high palate with bifid uvula, convergent squint, and glue ear. Development was profoundly delayed at age 5 years. Hypoplastic nails and diminutive terminal phalanges of all digits of both hands and feet suggested brachytelephalangy. He had problems swallowing secretions, and had multiple upper respiratory tract infections and was oxygen dependent. He died at 7 years of age.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau