Schinzel type phocomelia
Alternate names[edit | edit source]
Schinzel type phocomelia
Definition[edit | edit source]
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[edit | edit source]
Al-Awadi-Raas-Rothschild syndrome is caused by mutations (changes) to the WNT7A gene.
Inheritance[edit | edit source]
It is inherited in an autosomal recessive manner.
Onset[edit | edit source]
Signs and symptoms of AARR syndrome are present from birth.
Signs and symptoms[edit | edit source]
- 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[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
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[edit source]
Schinzel type phocomelia is a rare disease.
Schinzel type phocomelia Resources | ||
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