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Cerebrooculofacioskeletal syndrome 2(COFS2)

MedGen UID:
342799
Concept ID:
C1853102
Disease or Syndrome
Synonym: COFS2
 
Gene (location): ERCC2 (19q13.32)
 
Monarch Initiative: MONDO:0012553
OMIM®: 610756

Definition

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. [from MONDO]

Clinical features

From HPO
Small scrotum
MedGen UID:
141577
Concept ID:
C0455792
Finding
Apparently small scrotum for age.
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.
Congenital vertical talus
MedGen UID:
66821
Concept ID:
C0240912
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
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.
Prominent nose
MedGen UID:
98423
Concept ID:
C0426415
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
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.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
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.

Recent clinical studies

Etiology

Peng S, Ma H, Hao X, Han R, Ji X, Wang L, Fang Y, Pang K, Il-Ho K, Chen X
Environ Res 2024 Feb 15;243:117777. Epub 2023 Nov 28 doi: 10.1016/j.envres.2023.117777. PMID: 38036208
Reunert J, van den Heuvel A, Rust S, Marquardt T
Am J Med Genet A 2021 Mar;185(3):930-936. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62048. PMID: 33369099
Manandhar M, Boulware KS, Wood RD
Gene 2015 Sep 15;569(2):153-61. Epub 2015 Jun 12 doi: 10.1016/j.gene.2015.06.026. PMID: 26074087Free PMC Article
Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677
Rapin I
Handb Clin Neurol 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. PMID: 23622385

Diagnosis

Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753
Manandhar M, Boulware KS, Wood RD
Gene 2015 Sep 15;569(2):153-61. Epub 2015 Jun 12 doi: 10.1016/j.gene.2015.06.026. PMID: 26074087Free PMC Article
Hosseini M, Ezzedine K, Taieb A, Rezvani HR
J Invest Dermatol 2015 Feb;135(2):341-351. Epub 2014 Oct 9 doi: 10.1038/jid.2014.365. PMID: 25296907
Rapin I
Handb Clin Neurol 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. PMID: 23622385
Rafique M, Zia S
J Coll Physicians Surg Pak 2012 Sep;22(9):607-9. PMID: 22980622

Therapy

Hosseini M, Ezzedine K, Taieb A, Rezvani HR
J Invest Dermatol 2015 Feb;135(2):341-351. Epub 2014 Oct 9 doi: 10.1038/jid.2014.365. PMID: 25296907
Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677
Kanemoto N, Kanemoto K, Kamoda T, Hasegawa M, Arinami T
Eur J Pediatr 2007 Aug;166(8):831-3. Epub 2006 Nov 30 doi: 10.1007/s00431-006-0333-7. PMID: 17136552
Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
Am J Hum Genet 2001 Aug;69(2):291-300. Epub 2001 Jul 3 doi: 10.1086/321295. PMID: 11443545Free PMC Article

Prognosis

Reunert J, van den Heuvel A, Rust S, Marquardt T
Am J Med Genet A 2021 Mar;185(3):930-936. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62048. PMID: 33369099
Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753
Horibata K, Kono S, Ishigami C, Zhang X, Aizawa M, Kako Y, Ishii T, Kosaki R, Saijo M, Tanaka K
J Hum Genet 2015 May;60(5):259-65. Epub 2015 Feb 26 doi: 10.1038/jhg.2015.18. PMID: 25716912
Kutschera J, Friedrich G, Urlesberger B, Eber E, Mueller W
Eur J Pediatr 2004 Feb;163(2):120-1. Epub 2003 Dec 5 doi: 10.1007/s00431-003-1374-9. PMID: 14658066
Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
Am J Hum Genet 2001 Aug;69(2):291-300. Epub 2001 Jul 3 doi: 10.1086/321295. PMID: 11443545Free PMC Article

Clinical prediction guides

Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, Garshasbi M, Naghavi A, Khalesi R, Mansouri P, Sotoudeh S, Mahmoudi H, Varghaei A, Daneshpazhooh M, Karimi F, Zeinali S, Kalamati E, Uitto J, Youssefian L, Vahidnezhad H
DNA Repair (Amst) 2024 Apr;136:103633. Epub 2024 Feb 29 doi: 10.1016/j.dnarep.2024.103633. PMID: 38422792
Panigrahi I, Shankar Prasad BA, Kaur H, Kalra J
Am J Med Genet A 2021 Feb;185(2):631-635. Epub 2020 Nov 21 doi: 10.1002/ajmg.a.61979. PMID: 33219753
Horibata K, Kono S, Ishigami C, Zhang X, Aizawa M, Kako Y, Ishii T, Kosaki R, Saijo M, Tanaka K
J Hum Genet 2015 May;60(5):259-65. Epub 2015 Feb 26 doi: 10.1038/jhg.2015.18. PMID: 25716912
Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677
Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG
Am J Hum Genet 2001 Aug;69(2):291-300. Epub 2001 Jul 3 doi: 10.1086/321295. PMID: 11443545Free PMC Article

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