Phenotype #0000305427

Individual ID 00413454
Associated disease RRS1
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Short stature [-5, 43 standard deviation (SD) score] and low weight (-3. 75 SD score),
high forehead, broad wide nasal bone,
upturned nose with anteverted nares, long philtrum and tented lips, telecanthus, hypertelorism, low set ears, macrocephaly and a triangular-fish mouth, pectus excavatum, mesomelic shortening of forearm, broad thumbs and other fingers, clinodactyly in left hand, syndactyly ing the second and third toes of the right foot and right cleft hand with absence of third finger. External genitalia revealed micropenis, retractile palpable testis and scrotal hypoplasia. Incomplete bladder duplication
Inheritance Familial, autosomal recessive
Age/Examination 02y? (approximately 2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Juliana Mazzeu
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Juliana Mazzeu
Date created 2022-07-18 20:09:23 +02:00 (CEST)
Date last edited N/A

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