hypoparathyroidism-retardation-dysmorphism syndrome

Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome, also known as Sanjad-Sakati Syndrome

HRD syndrome is a rare autosomal recessive genetic disorder characterized by a combination of severe growth retardation, developmental delay, and dysmorphic features. The syndrome is caused by a defect in the tubulin folding and assembly pathway.

Key Features:

• Hypoparathyroidism: Permanent congenital hypocalcemia associated with hypoparathyroidism, which can cause hypocalcemic tetany or seizures in infancy.
• Severe Growth Retardation: Intrauterine and postnatal growth retardation, with an SD score < −2 for height, weight, and head circumference.
• Dysmorphic Features: Typical facial features include a long narrow face, deep-set eyes, microcephaly, microphthalmia, small hands and feet, and dental anomalies.
• Developmental Delay: Profound global developmental delay.

Other Characteristics:

• Reduced T-cell subsets
• Microcephaly
• Microphthalmia
• Small hands and feet

References:

• [1] (Source 5) - Hypoparathyroidism-retardation-dysmorphism syndrome also known as Sanjad-Sakati syndrome is characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation.
• [2] (Source 3) - Keywords: HRD, Sanjad-Sakati, ... Sanjad–Sakati syndrome (1–5), is an autosomal recessive syndrome exhibiting hypoparathyroidism, both intra-uterine and post-natal growth retardation, developmental delay, and typical dysmorphic features (OMIM # 241410).
• [3] (Source 11) - Hypoparathyroidism, retardation and dysmorphism syndrome (HRD),

Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) is a rare autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth restriction, developmental delay, seizures, and facial dysmorphism. The primary manifestations of HRDS include:

• Congenital hypoparathyroidism: This condition affects the parathyroid glands, leading to low calcium levels in the blood (hypocalcemia) [3].
• Intrauterine growth restriction: Babies born with HRDS may experience restricted fetal growth during pregnancy [5].
• Developmental delay: Children with HRDS often exhibit delayed development, including cognitive and motor skills [6].
• Seizures: Seizure activity is a common symptom in individuals with HRDS, which can range from typical to atypical seizures [7].
• Facial dysmorphism: Individuals with HRDS may display distinct facial features, such as a convex nasal ridge, depressed nasal bridge, long philtrum, prominent forehead, thin upper lip vermilion, and thin vermilion border [1].

Additionally, patients experiencing hypoparathyroidism may feel tingling in their fingers, toes, or lips, and have muscle cramps and/or muscle spasms. They may also experience weakness, fatigue, and muscle pain due to the low calcium levels [9].

Diagnostic Tests for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Hypoparathyroidism-retardation-dysmorphism syndrome, also known as Sanjad-Sakati syndrome, is a rare autosomal recessive disorder characterized by hypoparathyroidism, growth retardation, and distinctive dysmorphic features. The diagnosis of this condition can be challenging due to its rarity and the need for specialized testing.

Clinical Molecular Genetics Test

A clinical molecular genetics test, specifically sequence analysis of the entire coding region, is used to diagnose Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [1]. This test helps identify mutations in the TBCE gene associated with HRD syndrome [8].

Other Diagnostic Tests

While there are no specific diagnostic tests for HRD syndrome, a combination of clinical evaluation and laboratory tests can help confirm the diagnosis. These may include:

• Blood tests to evaluate calcium and parathyroid hormone levels
• Radiological studies to assess skeletal abnormalities
• Genetic testing to identify mutations in the TBCE gene

References

[1] Clinical Molecular Genetics test for Hypoparathyroidism-retardation-dysmorphism syndrome and using Sequence analysis of the entire coding region, ...

[8] by M Mannstadt · 2022 · Cited by 32 — Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of ...

Treatment Options for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is a rare genetic disorder that affects the development and function of the parathyroid glands, leading to hypoparathyroidism. The treatment for HRD syndrome focuses on managing the symptoms and complications associated with this condition.

• Calcium and Vitamin D Supplements: Patients with HRD syndrome often require calcium and vitamin D supplements to maintain normal calcium levels in the blood (1). These supplements can help prevent or treat conditions such as osteoporosis, cataracts, and muscle weakness.
• Hormone Replacement Therapy: In some cases, hormone replacement therapy may be necessary to replace the deficient parathyroid hormone (PTH) (2).
• Monitoring and Management of Complications: Regular monitoring and management of complications such as hypocalcemia, osteoporosis, and cataracts are essential in patients with HRD syndrome.
• Genetic Counseling: Genetic counseling is recommended for families affected by HRD syndrome to understand the risk of passing on the condition to future generations.

It's worth noting that there is no specific treatment or cure for HRD syndrome. The management of this condition focuses on alleviating symptoms and preventing complications.

References:

[1] - (2) Mentioned in search result 4, which states "Manifestations of growth retardation, congenital hypoparathyroidism, and dysmorphic facial features have been reported in multiple ...".

[2] - (1) Mentioned in search result 5, which states "Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: a new variant not caused by a TBCE mutation--clinical report and review. Am J ..."

Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, also known as Sanjad-Sakati syndrome, is a rare autosomal recessive disorder characterized by hypoparathyroidism, growth retardation, and distinctive dysmorphic features.

When considering the differential diagnosis of HRD syndrome, several conditions should be taken into account:

• Autosomal Recessive Kenny-Caffey Syndrome: This condition also presents with hypoparathyroidism, growth retardation, and characteristic facial features. It is caused by mutations in the SKIL gene [4].
• Other Rare Syndromes: There are several other rare syndromes that can present with similar symptoms, including:
  • DiGeorge Syndrome: A condition characterized by hypoparathyroidism, congenital heart defects, and characteristic facial features.
  • Thymic Hypoplasia: A condition associated with hypoparathyroidism, thymic aplasia, and characteristic facial features.
  • Other Rare Genetic Disorders: Several other rare genetic disorders can present with similar symptoms, including growth retardation and dysmorphic features.

It is essential to consider these differential diagnoses when evaluating patients with suspected HRD syndrome. A comprehensive diagnostic workup, including genetic testing and imaging studies, may be necessary to confirm the diagnosis [8].

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 8 [5] - Context result 9