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Disease Profile

Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Sanjad-Sakati syndrome; HRD syndrome; Hypoparathyroidism with short stature, intellectual disability and seizures;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Nervous System Diseases

Summary

Hypoparathyroidismintellectual disability-dysmorphism syndrome is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability. 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. It is caused by mutations in the TBCE gene and is inherited in an autosomal recessive manner.[1][2] Treatment is focused on management of symptoms such as the use of growth hormone to assist in growth.[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Congenital hypoparathyroidism
0008198
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity

[ more ]

0000444
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
External ear malformation
0008572
High forehead
0000348
Hyperphosphatemia
High blood phosphate levels
0002905
Hypocalcemia
Low blood calcium levels
0002901
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Long philtrum
0000343
Low-set, posteriorly rotated ears
0000368
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Postnatal growth retardation
Growth delay as children
0008897
Seizure
0001250
Severe intrauterine growth retardation
Severe prenatal growth deficiency
0008846
Short foot
Short feet
Small feet

[ more ]

0001773
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small hand
Disproportionately small hands
0200055
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
30%-79% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
5%-29% of people have these symptoms
Aplasia/Hypoplasia affecting the eye
Absent/small eye
Absent/underdeveloped eye

[ more ]

0008056
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Cellular immunodeficiency
0005374
Corneal opacity
0007957
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Hypoplasia of penis
Underdeveloped penis
0008736
Intestinal obstruction
Bowel obstruction
Intestinal blockage

[ more ]

0005214
Myopathy
Muscle tissue disease
0003198
Patchy osteosclerosis
Uneven increase in bone density
0005686
Spinal canal stenosis
Narrow spinal canal
0003416
Ventriculomegaly
0002119
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bifid uvula
0000193
Delayed myelination
0012448
Frontal bossing
0002007
Growth hormone deficiency
0000824
Hypocalcemic seizures
Low calcium seizures
0002199
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Micropenis
Short penis
Small penis

[ more ]

0000054
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections

[ more ]

0002718
Short palm
0004279
Tetany
Intermittent involuntary muscle spasm
0001281

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypoparathyroidism-intellectual disability-dysmorphism syndrome. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Sanjad-Sakati syndrome. Orphanet. April 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2323.
          2. K K Naguib, S A Gouda, A Elshafey, F Mohammed, L Bastaki, AS Azab, SA Alawadi. Sanjad–Sakati syndrome/Kenny–Caffey syndrome type 1: A study of 21 cases in Kuwait. Eastern Mediterranean Health Journal. 2009; 15(2):345-352. https://applications.emro.who.int/emhj/1502/15_2_2009_0345_0352.pdf. Accessed 5/20/2016.
          3. Victor A. McKusick. HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD. In: Marla J. F. O'Neill. OMIM. 2/24/2014; https://www.omim.org/entry/241410.