Ulna and Fibula, Absence of, with Severe Limb Deficiency (LPHAS)

Alias:

Schinzel Phocomelia Syndrome

Limb/pelvis-Hypoplasia/aplasia Syndrome

Aplasia/hypoplasia of Limbs and Pelvis

Congenital Absence of Ulna and Fibula

Al Awadi-Raas-Rothschild Syndrome

Severe Limb Deficit

Lphas

Aarrs

Absence of Ulna and Fibula with Severe Limb Deficiency

Al-Awadi/raas-Rothschild Syndrome

Phocomelia, Schinzel Type

Schinzel Type Phocomelia

Ulna and Fibula, Absence of, with Sever Limb Deficiency

Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome

Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome

Limb Pelvis Hypoplasia Aplasia Syndrome

Phocomelia Schinzel Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ulna and Fibula, Absence of, with Severe Limb Deficiency, also known as schinzel phocomelia syndrome, is related to fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly and synostosis. An important gene associated with Ulna and Fibula, Absence of, with Severe Limb Deficiency is WNT7A (Wnt Family Member 7A). Affiliated tissues include uterus and bone, and related phenotypes are aplasia/hypoplasia of the extremities and bowing of the long bones

Related ID：

MALACARDS：ULN017

OMIM：276820

MESH：D004480