Synonyms

Femoral hypoplasia-unusual face syndrome

May Cause

Abnormal proximal femur

Abnormal septum pellucidum

Absent nose

Absent tibia

Agenesis or hypoplasia of the corpus callosum

Anorectal anomaly

Cleft lip/palate

Clubfoot

Congenital abnormality of great toe

Congenital coxa vara

Congenital foot deformity

Congenital renal cystic disease

Congenital renal or ureteral anomaly

Congenital vertebral abnormality

Congenitally limited joint mobility

Coxa vara

Cryptorchidism

Decreased number of ribs

Defective pubic ossification

Diabetes mellitus

Duplication of great toe

Eleven pairs of ribs

Encephalocele/meningocele

Facial dysmorphism

Facial hypoplasia

Humerus-radius-ulna synostosis

Hypoplastic labia majora

Limb asymmetry

Limited joint mobility

Metatarsus adductus

Micrognathia

Preaxial polydactyly

Proximal femoral deficiency

Radiohumeral synostosis

Radioulnar synostosis

Renal cystic disease

Rhizomelic dwarfism

Rhizomelic limb shortness

Rib anomaly

Sacral agenesis or hypoplasia

Scoliosis

Short metatarsals

Small nose

Strabismus

Tibial hypoplasia

Vertebral malsegmentation