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Hypoparathyroidism-retardation-dysmorphism syndrome(HRDS)

MedGen UID:
340984
Concept ID:
C1855840
Disease or Syndrome
Synonyms: HRD syndrome; HRDS; Hypoparathyroidism with short stature, mental retardation and seizures; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay; Sanjad-Sakati syndrome
SNOMED CT: Richardson Kirk syndrome (1197148005); Hypoparathyroidism, short stature, intellectual disability, seizures syndrome (1197148005); Hypoparathyroidism, intellectual disability, dysmorphism syndrome (1197148005); Sanjad Sakati syndrome (1197148005); SSS - Sanjad Sakati syndrome (1197148005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TBCE (1q42.3)
 
Monarch Initiative: MONDO:0009426
OMIM®: 241410
Orphanet: ORPHA2323

Definition

Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by Padidela et al., 2009 and Ratbi et al., 2015). [from OMIM]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Severe intrauterine growth retardation
MedGen UID:
383783
Concept ID:
C1855843
Finding
Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Delayed myelination
MedGen UID:
224820
Concept ID:
C1277241
Finding
Delayed myelination.
Hypocalcemic seizures
MedGen UID:
340985
Concept ID:
C1855841
Disease or Syndrome
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Tetany
MedGen UID:
11748
Concept ID:
C0039621
Finding
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Patchy osteosclerosis
MedGen UID:
383784
Concept ID:
C1855845
Finding
Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Hypocalcemia
MedGen UID:
5705
Concept ID:
C0020598
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Hyperphosphatemia
MedGen UID:
39326
Concept ID:
C0085681
Disease or Syndrome
An abnormally increased phosphate concentration in the blood.
Decreased circulating parathyroid hormone level
MedGen UID:
1630961
Concept ID:
C0729198
Finding
An abnormally decreased concentration of parathyroid hormone.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Thin vermilion border
MedGen UID:
108294
Concept ID:
C0578038
Finding
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Congenital hypoparathyroidism
MedGen UID:
264103
Concept ID:
C1455734
Congenital Abnormality
Deficiency of parathyroid hormone with congenital onset.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoparathyroidism-retardation-dysmorphism syndrome
Follow this link to review classifications for Hypoparathyroidism-retardation-dysmorphism syndrome in Orphanet.

Recent clinical studies

Etiology

David O, Barash G, Agur R, Loewenthal N, Carmon L, Shaki D, Walker D, Novoa R, Haim A, Hershkovitz E
J Clin Endocrinol Metab 2021 Jan 23;106(2):e907-e916. doi: 10.1210/clinem/dgaa807. PMID: 33150438
Aminzadeh M, Galehdari H, Shariati G, Malekpour N, Ghandil P
J Pediatr (Rio J) 2020 Jan-Feb;96(1):60-65. Epub 2018 Aug 4 doi: 10.1016/j.jped.2018.07.005. PMID: 30080992Free PMC Article
Maaloul I, Aloulou H, Kmiha S, Belfitouri Y, Kamoun H, Fakhfakh F, Chabchoub I, Kammoun T, Hachicha M
Tunis Med 2018 Aug-Sep;96(8-9):472-476. PMID: 30430523

Diagnosis

Al-Yaarubi S, Al-Abri AS, Al-Kindi H, Al-Abri M, Naz T, Khater D
Sleep Breath 2022 Jun;26(2):815-821. Epub 2021 Aug 9 doi: 10.1007/s11325-021-02463-4. PMID: 34368942
Aminzadeh M, Galehdari H, Shariati G, Malekpour N, Ghandil P
J Pediatr (Rio J) 2020 Jan-Feb;96(1):60-65. Epub 2018 Aug 4 doi: 10.1016/j.jped.2018.07.005. PMID: 30080992Free PMC Article
Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D
Arch Pediatr 2019 Feb;26(2):102-107. Epub 2019 Jan 10 doi: 10.1016/j.arcped.2018.11.012. PMID: 30638765
Maaloul I, Aloulou H, Kmiha S, Belfitouri Y, Kamoun H, Fakhfakh F, Chabchoub I, Kammoun T, Hachicha M
Tunis Med 2018 Aug-Sep;96(8-9):472-476. PMID: 30430523
Hassona Y, Rajab L, Taimeh D, Scully C
Med Princ Pract 2018;27(3):293-296. Epub 2018 Mar 13 doi: 10.1159/000488352. PMID: 29533933Free PMC Article

Therapy

David O, Barash G, Agur R, Loewenthal N, Carmon L, Shaki D, Walker D, Novoa R, Haim A, Hershkovitz E
J Clin Endocrinol Metab 2021 Jan 23;106(2):e907-e916. doi: 10.1210/clinem/dgaa807. PMID: 33150438
Prasad R, Kumari C, Mishra OP, Singh UK
BMJ Case Rep 2013 Feb 1;2013 doi: 10.1136/bcr-2012-007794. PMID: 23378547Free PMC Article

Prognosis

David O, Barash G, Agur R, Loewenthal N, Carmon L, Shaki D, Walker D, Novoa R, Haim A, Hershkovitz E
J Clin Endocrinol Metab 2021 Jan 23;106(2):e907-e916. doi: 10.1210/clinem/dgaa807. PMID: 33150438
Maaloul I, Aloulou H, Kmiha S, Belfitouri Y, Kamoun H, Fakhfakh F, Chabchoub I, Kammoun T, Hachicha M
Tunis Med 2018 Aug-Sep;96(8-9):472-476. PMID: 30430523
Ajarmeh SA, Al Tamimi EM
J Pediatr Endocrinol Metab 2018 Apr 25;31(5):581-584. doi: 10.1515/jpem-2017-0317. PMID: 29494340

Clinical prediction guides

Abolnezhadian F, Aminzadeh M, Iranparast S, Dehnavi S, Dousti F, Sharifat M, Moradzadegan H
Iran J Allergy Asthma Immunol 2024 Feb 11;23(1):115-121. doi: 10.18502/ijaai.v23i1.14959. PMID: 38485906
Al-Yaarubi S, Al-Abri AS, Al-Kindi H, Al-Abri M, Naz T, Khater D
Sleep Breath 2022 Jun;26(2):815-821. Epub 2021 Aug 9 doi: 10.1007/s11325-021-02463-4. PMID: 34368942
David O, Barash G, Agur R, Loewenthal N, Carmon L, Shaki D, Walker D, Novoa R, Haim A, Hershkovitz E
J Clin Endocrinol Metab 2021 Jan 23;106(2):e907-e916. doi: 10.1210/clinem/dgaa807. PMID: 33150438
Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D
Arch Pediatr 2019 Feb;26(2):102-107. Epub 2019 Jan 10 doi: 10.1016/j.arcped.2018.11.012. PMID: 30638765
Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R
Am J Med Genet A 2006 Mar 15;140(6):611-7. doi: 10.1002/ajmg.a.31122. PMID: 16470743

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