Schinzel type phocomelia

Alternate names

Schinzel type phocomelia

Definition

Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Al-Awadi-Raas-Rothschild syndrome is very similar to another syndrome known as Fuhrmann syndrome. The symptoms associated with Fuhrmann syndrome tend to be more mild than those associated with Al-Awadi-Raas-Rothschild syndrome.

Cause

Al-Awadi-Raas-Rothschild syndrome is caused by mutations (changes) to the WNT7A gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Onset

Signs and symptoms of AARR syndrome are present from birth.

Signs and symptoms

• Symptoms may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures (genitalia).
• Females with this syndrome may have an absent uterus, and males may have undescended testes (cryptorchidism).

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormality of tibia morphology(Abnormality of the shankbone)
• Aplasia of the ulna
• Aplasia/Hypoplasia involving the pelvis
• Aplasia/hypoplasia of the femur(Absent/small thighbone)
• Aplasia/Hypoplasia of the sacrum(Absent/small sacrum)
• Disproportionate short stature
• Ectrodactyly(Cleft hand)
• Fibular aplasia(Absent calf bone)
• Foot oligodactyly(Missing toes)
• Hand oligodactyly(Hand has less than 5 fingers)
• Micromelia(Smaller or shorter than typical limbs)
• Nail dysplasia(Atypical nail growth)
• Short foot(Short feet)

30%-79% of people have these symptoms

• Aplasia of the uterus(uterus absent)
• Aplasia/Hypoplasia involving the carpal bones(Absent/small wrist bones)
• Aplasia/Hypoplasia involving the metacarpal bones(Absent/small long bones of hand)
• Aplasia/Hypoplasia of metatarsal bones(Absent/small long bone of foot)
• Aplasia/Hypoplasia of the phalanges of the hand
• Aplasia/Hypoplasia of the phalanges of the toes(Absent/small toe bones)
• Aplasia/Hypoplasia of the pubic bone(Absent/small pubic bones)
• Aplasia/Hypoplasia of the tarsal bones(Absent/small ankle bone
• Elbow ankylosis
• Elbow flexion contracture(Contractures of elbows)
• Femoral bowing(Bowed thighbone)
• Humeroradial synostosis(Fusion of upper and lower arm bones)
• Hypoplasia of the radius(Underdeveloped outer large forearm bone)
• Intrauterine growth retardation(Prenatal growth deficiency)
• Micrognathia(Little lower jaw)
• Phocomelia
• Radial bowing(Bowing of outer large bone of the forearm)
• Short neck(Decreased length of neck)
• Split hand(Claw hand)

Diagnosis

• Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome.
• The diagnosis can be confirmed by genetic testing.

Treatment

Treatment for Al-Awadi-Raas-Rothschild syndrome depends on the specific symptoms of each affected person, but may include surgical options.

NIH genetic and rare disease info

• NIH info on Schinzel type phocomelia

Schinzel type phocomelia is a rare disease.

Schinzel type phocomelia Resources
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