Opitz syndrome
An autosomal dominant condition caused by mutation(s) in the ASXL1 gene, encoding putative polycomb group protein ASXL1. It is characterized by severe intrauterine growth retardation, profound mental retardation, craniofacial dysmorphisms, and flexion deformities of the upper limbs.
Disease Alternative Name
Recent Cases of Opitz syndrome
Browse recently discussed Opitz syndrome cases by specialists643 Views
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Top Opitz syndrome Doctors on Curofy
Top doctors who continously share their opinions on Opitz syndromeJagadguru Jayadeva Murugarajendra Medical College
Retired Professor and Head Pediatrics
Jagadguru Jayadeva Murugarajendra Medical College
md,frcpch(uk),ficpcc(London),masp(usa),phd, fams ,fimsa.

S M S Medical College & Hospital
Assistant Professor Ophthalmology
Dr R P Centre, AIIMS,
MD Ophthalmology

Niloufer Hospital
MD Pediatrics
Nilofer Hospital, Osmania Med College
MD pediatrics

Sepuri Endocrine & Diabetes Center
Chief Endocrinologist & Diabetologist for the Last 25 Years
Royal College of Physicians, United Kingdom
Masters Degree in Clinical Endocrinology & Diabetes

Rainbow Hospital
Registrar
Goa Medical College
MD Pediatrics

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Tibial aplasia and prosthetic Leg restoration. *Chief Complaints* Due to congenital anomalies she walks with abnormal gait patterns. *History* When she was born 28 years ago with such congenital anomalies. Her parents never thought that their 5th girl child would be the same as others 4 . But she had different problems with tibial aplasia and others 4 having complex syndactyly in both hands. Same as their father having complex syndactyly. *Vitals* Unable to perform activities of daily living. *Physical Examination* Problem with walking and gripping and grasping. *Management* 28 years old girl looking for Prosthetics management for tibial aplasia. Our team takes measurements and casting for Prosthetic Leg restoration. Now she walks comfortably with a new prosthetic Leg.
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