Frank Ter Haar syndrome

Alternate names

Ter Haar syndrome; Autosomal recessive Melnick-Needles syndrome (formerly); Megalocornea, multiple skeletal anomalies, and developmental delay

Definition

Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin).

Epidemiology

Less than 30 cases have been reported worldwide.

Cause

This condition is caused by mutations in the SH3PXD2B gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is thought to be inherited in an autosomal recessive fashion.

Signs and symptoms

It is characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present.

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

• Acne
• Avascular necrosis(Death of bone due to decreased blood supply)
• Brachydactyly(Short fingers or toes)
• Coarse facial features(Coarse facial appearance)
• Deeply set eye(Deep set eye)
• Depressed nasal bridge(Depressed bridge of nose)
• Hypertelorism(Wide-set eyes)
• Mitral valve prolapse
• Osteolysis(Breakdown of bone)
• Short philtrum
• Thick vermilion border(Full lips)
• Thickened skin(Thick skin)
• Wide mouth(Broad mouth)
• Wide nasal bridge(Broad nasal bridge)

30%-79% of people have these symptoms

• Abnormality of the metacarpal bones(Abnormality of the long bone of hand)
• Beaking of vertebral bodies
• Broad forehead(Increased width of the forehead)
• Camptodactyly of finger(Permanent flexion of the finger)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Delayed eruption of teeth(Delayed eruption)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Genu recurvatum (Back knee)
• Gingival overgrowth(Gum enlargement)
• High forehead
• Joint stiffness(Stiff joint)
• Kyphosis(Hunched back)
• Mandibular prognathia(Big lower jaw)
• Premature loss of teeth(Early tooth loss)
• Protruding ear(Prominent ear)
• Scoliosis

5%-29% of people have these symptoms

• Abnormal heart morphology(Abnormality of the heart)
• Gynecomastia(Enlarged male breast)
• Inguinal hernia
• Motor delay
• Umbilical hernia

Treatment

There is no treatment for FTHS, though identification of TKS4 mutation as a causative factor may eventually provide new opportunities for neonatal screening in high-risk families.

NIH genetic and rare disease info

• NIH info on Frank Ter Haar syndrome

Frank Ter Haar syndrome is a rare disease.