U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

MedGen UID:
374340
Concept ID:
C1839910
Disease or Syndrome
Synonyms: Dwarfism, cerebral atrophy and generalized keratosis follicularis; Keratosis follicularis dwarfism and cerebral atrophy
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010638
OMIM®: 308830
Orphanet: ORPHA2339

Definition

A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. [from ORDO]

Clinical features

From HPO
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
Absent hair
MedGen UID:
108274
Concept ID:
C0574763
Finding
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Congenital Abnormality
Lack of eyelashes.
Generalized keratosis follicularis
MedGen UID:
870433
Concept ID:
C4024879
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKeratosis follicularis-dwarfism-cerebral atrophy syndrome
Follow this link to review classifications for Keratosis follicularis-dwarfism-cerebral atrophy syndrome in Orphanet.

Professional guidelines

PubMed

Peterson WC, Gorlin RJ, Peagler F, Bruhl H
Arch Dermatol 1966 Dec;94(6):695-8. PMID: 5923433

Recent clinical studies

Etiology

Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
Rand R, Baden HP
Arch Dermatol 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22. PMID: 6336927
Curth HO
Arch Dermatol 1978 Oct;114(10):1479-83. PMID: 718183

Diagnosis

Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Fouzdar-Jain S, Suh DW, Rizzo WB
Ophthalmic Genet 2019 Aug;40(4):298-308. Epub 2019 Sep 12 doi: 10.1080/13816810.2019.1660379. PMID: 31512987
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442

Therapy

Demir M, Işık AÜ, Arslan S, Çobanoğlu HB, Bahadır O, İmamoğlu M
Int J Pediatr Otorhinolaryngol 2023 Dec;175:111751. Epub 2023 Oct 10 doi: 10.1016/j.ijporl.2023.111751. PMID: 37839293
Iqtadar S, Mumtaz SU, Abaidullah S
J Med Case Rep 2015 Dec 18;9:288. doi: 10.1186/s13256-015-0773-7. PMID: 26683691Free PMC Article
Payne-James JJ, Munro MH, Rowland Payne CM
J Forensic Leg Med 2007 Feb;14(2):65-71. doi: 10.1016/j.jcfm.2006.01.013. PMID: 17650550
König A, Happle R
Am J Med Genet 1999 Aug 6;85(4):365-8. doi: 10.1002/(sici)1096-8628(19990806)85:4<365::aid-ajmg12>3.0.co;2-#. PMID: 10398262
Goldberg LH, Altman A
Cutis 1984 Jul;34(1):33-8, 40. PMID: 6467973

Prognosis

Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G
Acta Derm Venereol 2008;88(6):607-12. doi: 10.2340/00015555-0547. PMID: 19002348
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442
Rand R, Baden HP
Arch Dermatol 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22. PMID: 6336927

Clinical prediction guides

Demir M, Işık AÜ, Arslan S, Çobanoğlu HB, Bahadır O, İmamoğlu M
Int J Pediatr Otorhinolaryngol 2023 Dec;175:111751. Epub 2023 Oct 10 doi: 10.1016/j.ijporl.2023.111751. PMID: 37839293
Cohen-Barak E, Azzam W, Koetsier JL, Danial-Farran N, Barcan M, Hriesh M, Khayat M, Edison N, Krausz J, Gafni-Amsalem C, Kubo A, Godsel LM, Ziv M, Allon-Shalev S
Exp Dermatol 2022 Feb;31(2):214-222. Epub 2021 Aug 17 doi: 10.1111/exd.14444. PMID: 34379845Free PMC Article
Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S
Dis Model Mech 2017 Feb 1;10(2):105-118. Epub 2016 Dec 15 doi: 10.1242/dmm.026476. PMID: 28067622Free PMC Article
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...