Gamuts

Nail-patella syndrome

Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins. [Source: Wikipedia ]

Synonyms
Osteo-onychodysplasia
OrphaNet reference
Nail-patella syndrome 
May Cause
Abnormal scapula
Absent patella
Camptodactyly
Cataract
Clinodactyly
Clinodactyly of fifth finger
Clubfoot
Congenital elbow anomaly
Congenital foot deformity
Congenital joint subluxation
Congenital renal cystic disease
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally abnormal scapula
Congenitally limited joint mobility
Elbow dislocation
Exostosis
Eyelid ptosis
Focally dense calvarium
Genu valgum
Glaucoma
Hypoplastic patella
Iliac horn
Irregular epiphyseal ossification centers
Joint laxity
Joint subluxation
Limited joint mobility
Localized small epiphyses
Malformed patella
Medullary nephrocalcinosis
Metatarsus adductus
Multiple abnormal epiphyses
Nail aplasia
Nail deformity
Nail dystrophy
Nail hypoplasia
Nephropathy
Pelvic exostosis
Pterygium
Small acetabular angle
Spina bifida
Tibiotalar tilt
Type B pelvis

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