Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Other Names: Sanjad-Sakati syndrome; HRD syndrome; Hypoparathyroidism with short stature, intellectual disability and seizures; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Richardson-Kirk syndrome; SSS

Hypoparathyroidism-intellectual disability-dysmorphism syndrome is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability.

Cause

It is caused by mutations in the TBCE gene ,the locus for which is on Chromosome 1q42.3. The locus is a 230 kb region of gene with identified deletions and mutations in affected individuals. There are rare cases of the disorder not being due to a TBCE gene abnormality.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet.

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

• Congenital hypoparathyroidism
• Convex nasal ridge(Beaked nose)
• Deeply set eye(Deep set eye)
• Delayed skeletal maturation(Delayed bone maturation)
• Depressed nasal bridge(Depressed bridge of nose)
• External ear malformation
• High forehead
• Hyperphosphatemia(High blood phosphate levels)
• Hypocalcemia(Low blood calcium levels)
• Intellectual disability(Mental deficiency)
• Long philtrum
• Low-set, posteriorly rotated ears
• Microcephaly(Abnormally small skull)
• Micrognathia(Little lower jaw)
• Postnatal growth retardation(Growth delay as children)
• Seizure
• Severe intrauterine growth retardation(Severe prenatal growth deficiency)
• Short foot(Short feet)
• Short stature(Decreased body height)
• Small hand(Disproportionately small hands)
• Thin vermilion border(Decreased volume of lip)

30%-79% of people have these symptoms

• Abnormality of dental enamel(Abnormal tooth enamel)
• Recurrent respiratory infections(Frequent respiratory infections)

5%-29% of people have these symptoms

• Aplasia/Hypoplasia affecting the eye(Absent/small eye)
• Astigmatism(Abnormal curving of the cornea or lens of the eye)
• Cellular immunodeficiency
• Corneal opacity
• Cryptorchidism(Undescended testes)
• Hypoplasia of penis(Underdeveloped penis)
• Intestinal obstruction(Bowel obstruction)
• Myopathy(Muscle tissue disease)
• Patchy osteosclerosis(Uneven increase in bone density)
• Spinal canal stenosis(Narrow spinal canal)
• Ventriculomegaly

Diagnosis

Molecular Genetics Tests include: Deletion/duplication analysis Sequence analysis of select exons Sequence analysis of the entire coding region Targeted variant analysis

Treatment

Management is mainly supportive by controlling seizures and blood calcium levels.

NIH genetic and rare disease info

• NIH info on Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Hypoparathyroidism-intellectual disability-dysmorphism syndrome is a rare disease.

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