Gamuts

XXXXY syndrome

49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. [Source: Wikipedia ]

Synonyms
49,XXXXY syndrome
Chromosome XXXXY syndrome
XXXXY disease
OrphaNet reference
49,XXXXY syndrome 
Is A
Sex chromosome syndrome
May Cause
Abnormal sternum
Absent nose
Accessory epiphyses
Anodontia or hypodontia
Bifid scrotum
Brachydactyly
Broad toe
Clinodactyly of fifth finger
Congenital abnormality of great toe
Congenital elbow anomaly
Congenital foot deformity
Congenital hypodontia
Congenital joint subluxation
Congenital prognathism
Congenital short hands and feet
Congenitally limited joint mobility
Coxa valga
Defective dentition
Delayed dentition
Dense or thick skull
Depressed nasal bridge
Elbow dislocation
Flat occiput
Genital anomaly
Hydrops fetalis
Hypertelorism
Hypogonadism
Hypospadias or ambiguous external genitalia
Joint laxity
Limited joint mobility
Pes planus
Pseudoepiphyses
Radioulnar synostosis
Retarded skeletal maturation
Small nose
Synostosis of tubular bones
Taurodontism
Thick skull

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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