Crane-Heise syndrome

Other Names: Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus

Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.

Epidemiology

Nine cases have been reported in the literature so far.

Cause

The cause is not yet known. One gene apparently associated with the disease is FGD1 . It is located on the X chromosome , gene locus p11.21.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait.

Signs and symptoms

Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant.

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

• Anteverted nares(Nasal tip, upturned)
• Aplastic clavicle(Absent collarbone)
• Cleft palate(Cleft roof of mouth)
• Decreased skull ossification(Decreased bone formation of skull)
• Depressed nasal bridge
• Hypertelorism(Wide-set eyes)
• Hypoplastic scapulae(Small shoulder blade)
• Intrauterine growth retardation(Prenatal growth deficiency)
• Low-set, posteriorly rotated ears
• Micrognathia(Little lower jaw)
• Talipes equinovarus(Club feet)

30%-79% of people have these symptoms

• Abnormally ossified vertebrae(Abnormal bone maturation of vertebra)
• Cryptorchidism(Undescended testes)
• Finger syndactyly
• Joint stiffness(Stiff joint)
• Short distal phalanx of finger(Short outermost finger bone)
• Toe syndactyly(Fused toes)

5%-29% of people have these symptoms

• Aplasia/Hypoplasia of the corpus callosum
• Hypoplasia of penis(Underdeveloped penis)
• Ventriculomegaly

Diagnosis

A prenatal diagnosis of malformations of the head and spine is possible with fine ultrasound.

Differential diagnosis The following are to be distinguished:

• Kleidocranial Dysplasia
• Yunis-Varon Syndrome
• Pycnodysostosis
• CDAGS syndrome

Prognosis

Prognosis is poor; the syndrome is almost always lethal soon after birth.

NIH genetic and rare disease info

• NIH info on Crane-Heise syndrome

Crane-Heise syndrome is a rare disease.

Crane-Heise syndrome Resources
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