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Hair defect with photosensitivity and intellectual disability syndrome

MedGen UID:: 383868
•Concept ID:: C1856241
•: Disease or Syndrome

Synonyms:	Calderon Gonzalez-Cantu syndrome; Hair defect with photosensitivity and mental retardation; Hair defect-photosensitivity-intellectual disability syndrome; Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation
SNOMED CT:	Calderón González Cantu syndrome (721007005); Hair defect with photosensitivity and intellectual disability syndrome (721007005)

Monarch Initiative:	MONDO:0022316
OMIM®:	234030
Orphanet:	ORPHA1408

Definition

Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. [from SNOMEDCT_US]

Clinical features

From HPO

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.

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Sparse eyebrow

MedGen UID:: 371332
•Concept ID:: C1832446
•: Finding

Decreased density/number of eyebrow hairs.

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Brittle hair

MedGen UID:: 120480
•Concept ID:: C0263490
•: Disease or Syndrome

Fragile, easily breakable hair, i.e., with reduced tensile strength.

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Coarse hair

MedGen UID:: 124454
•Concept ID:: C0277959
•: Finding

Hair shafts are rough in texture.

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Cutaneous photosensitivity

MedGen UID:: 87601
•Concept ID:: C0349506
•: Pathologic Function

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

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Sparse eyelashes

MedGen UID:: 375151
•Concept ID:: C1843300
•: Finding

Decreased density/number of eyelashes.

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Sparse hair

MedGen UID:: 1790211
•Concept ID:: C5551005
•: Finding

Reduced density of hairs.

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Abnormality of head or neck
- Sparse eyebrow
Abnormality of the integument
Abnormality of the nervous system
- Intellectual disability

Professional guidelines

PubMed

Prenatal diagnosis of PIBIDS.

Savary JB, Vasseur F, Vinatier D, Manouvrier S, Thomas P, Deminatti MM
Prenat Diagn 1991 Nov;11(11):859-66. doi: 10.1002/pd.1970111107. PMID: 1754556

See all (1)

Recent clinical studies

Etiology

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D
Am J Hum Genet 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017. PMID: 31374204 Free PMC Article

Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.

Pereira LB, Valente NYS, Rocha VB
An Bras Dermatol 2018 Jan-Feb;93(1):135-137. doi: 10.1590/abd1806-4841.20187727. PMID: 29641717 Free PMC Article

PIBI(D)S: clinical and molecular characterization of a new case.

Fortina AB, Alaibac M, Piaserico S, Peserico A
J Eur Acad Dermatol Venereol 2001 Jan;15(1):65-9. doi: 10.1046/j.1468-3083.2001.00212.x. PMID: 11451329

Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect.

Tuteja N, Tuteja R
Crit Rev Biochem Mol Biol 2001;36(3):261-90. doi: 10.1080/20014091074192. PMID: 11450971

Nucleotide excision repair syndromes: molecular basis and clinical symptoms.

Bootsma D, Weeda G, Vermeulen W, van Vuuren H, Troelstra C, van der Spek P, Hoeijmakers J
Philos Trans R Soc Lond B Biol Sci 1995 Jan 30;347(1319):75-81. doi: 10.1098/rstb.1995.0012. PMID: 7746858

See all (12)

Diagnosis

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.

Pereira LB, Valente NYS, Rocha VB
An Bras Dermatol 2018 Jan-Feb;93(1):135-137. doi: 10.1590/abd1806-4841.20187727. PMID: 29641717 Free PMC Article

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M
J Med Genet 2015 Apr;52(4):269-74. Epub 2015 Jan 22 doi: 10.1136/jmedgenet-2014-102418. PMID: 25612912

PIBI(D)S: clinical and molecular characterization of a new case.

Fortina AB, Alaibac M, Piaserico S, Peserico A
J Eur Acad Dermatol Venereol 2001 Jan;15(1):65-9. doi: 10.1046/j.1468-3083.2001.00212.x. PMID: 11451329

Prenatal diagnosis of PIBIDS.

Savary JB, Vasseur F, Vinatier D, Manouvrier S, Thomas P, Deminatti MM
Prenat Diagn 1991 Nov;11(11):859-66. doi: 10.1002/pd.1970111107. PMID: 1754556

See all (8)