Hypoparathyroidism-intellectual disability-dysmorphism syndrome

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Disease Profile

Unknown

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

Q87.1

Inheritance

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

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

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

Do you have updated information on this disease? We want to hear from you.

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

Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: staff@birthdefects.org
Website: https://www.birthdefects.org/
HypoPARAthyroidism Association, Inc. (HPTH )
695 Montecito Ct
Lemoore, CA 93245
Telephone: +1-559-817-7170
E-mail: dmurphy@hypopara.org
Website: https://hypopara.org/

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

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.

References

Sanjad-Sakati syndrome. Orphanet. April 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2323.
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.
Victor A. McKusick. HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD. In: Marla J. F. O'Neill. OMIM. 2/24/2014; https://www.omim.org/entry/241410.

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