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Gollop syndrome(FFND)

MedGen UID:
444125
Concept ID:
C2931720
Disease or Syndrome
Synonyms: FFND; Frontofacionasal dysostosis; Frontofacionasal dysplasia
SNOMED CT: Frontofacionasal dysplasia syndrome (716022002); Gollop syndrome (716022002); Fronto-facio-nasal dysplasia (716022002)
 
Monarch Initiative: MONDO:0009247
OMIM®: 229400
Orphanet: ORPHA1791

Definition

The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissures, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760). [from OMIM]

Clinical features

From HPO
Frontal cutaneous lipoma
MedGen UID:
342634
Concept ID:
C1850970
Finding
Presence of a cutaneous lipoma on the forehead.
Cranium bifidum occultum
MedGen UID:
358250
Concept ID:
C1868598
Congenital Abnormality
There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.\n\nThe enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings.\n\nEnlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Hypoplasia of the frontal bone
MedGen UID:
375593
Concept ID:
C1845147
Finding
Underdevelopment of the frontal bone.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Anatomical Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Bifid nose
MedGen UID:
66379
Concept ID:
C0221363
Congenital Abnormality
Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
Ankyloblepharon
MedGen UID:
83282
Concept ID:
C0339182
Anatomical Abnormality
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Eyelid coloboma
MedGen UID:
141737
Concept ID:
C0521573
Congenital Abnormality
A short discontinuity of the margin of the lower or upper eyelid.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Orofacial cleft
MedGen UID:
472000
Concept ID:
C3266076
Congenital Abnormality
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
S-shaped palpebral fissures
MedGen UID:
870343
Concept ID:
C4024787
Finding
Midline defect of the nose
MedGen UID:
870948
Concept ID:
C4025411
Anatomical Abnormality
This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Absent inner eyelashes
MedGen UID:
870368
Concept ID:
C4024812
Finding
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
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.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGollop syndrome
Follow this link to review classifications for Gollop syndrome in Orphanet.

Professional guidelines

PubMed

Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Møller P, Möslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P, Snowsill TM, Steele R, Tischkowitz M; Manchester International Consensus Group, Evans DG
Genet Med 2019 Oct;21(10):2390-2400. Epub 2019 Mar 28 doi: 10.1038/s41436-019-0489-y. PMID: 30918358Free PMC Article
Gollop TR, Naccache NF, Auler-Bittencourt E, Hauschild D, Eigier A, Zveibil DK
Am J Med Genet 1991 Apr 1;39(1):76-7. doi: 10.1002/ajmg.1320390116. PMID: 1831009
Gollop TR, Eigier A, Guidugli Neto J
Prenat Diagn 1987 May;7(4):295-8. doi: 10.1002/pd.1970070411. PMID: 3295847

Recent clinical studies

Etiology

Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Møller P, Möslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P, Snowsill TM, Steele R, Tischkowitz M; Manchester International Consensus Group, Evans DG
Genet Med 2019 Oct;21(10):2390-2400. Epub 2019 Mar 28 doi: 10.1038/s41436-019-0489-y. PMID: 30918358Free PMC Article
Loudon BL, Gollop ND, Carter PR, Uppal H, Chandran S, Potluri R
Int J Cardiol 2016 Oct 1;220:745-9. Epub 2016 Jun 26 doi: 10.1016/j.ijcard.2016.06.188. PMID: 27393860
Wada A, Nakamura T, Fujii T, Urano N, Yanagida H, Takamura K, Taketa M, Oketani Y, Kubota H
J Pediatr Orthop B 2013 Sep;22(5):457-63. doi: 10.1097/BPB.0b013e3283620640. PMID: 23660549
Alessandri JL, Isidor B, David A, Martin-Coignard D, Ghazouani J, Ramful D, Laville JM, Le Caignec C
Am J Med Genet A 2010 Nov;152A(11):2805-9. doi: 10.1002/ajmg.a.33633. PMID: 20949521
Bos CF, Taminiau AH
J Pediatr Orthop B 2007 Nov;16(6):409-13. doi: 10.1097/BPB.0b013e3282f057f3. PMID: 17909338

Diagnosis

Loudon BL, Gollop ND, Carter PR, Uppal H, Chandran S, Potluri R
Int J Cardiol 2016 Oct 1;220:745-9. Epub 2016 Jun 26 doi: 10.1016/j.ijcard.2016.06.188. PMID: 27393860
Wada A, Nakamura T, Fujii T, Urano N, Yanagida H, Takamura K, Taketa M, Oketani Y, Kubota H
J Pediatr Orthop B 2013 Sep;22(5):457-63. doi: 10.1097/BPB.0b013e3283620640. PMID: 23660549
Ugras AA, Sungur I, Akyildiz MF, Ercin E
Orthopedics 2010 Feb;33(2):124-6. doi: 10.3928/01477447-20100104-30. PMID: 20192156
Gollop TR, Eigier A, Guidugli Neto J
Prenat Diagn 1987 May;7(4):295-8. doi: 10.1002/pd.1970070411. PMID: 3295847
Gollop TR, Fontes LR
Am J Med Genet 1985 Sep;22(1):59-68. doi: 10.1002/ajmg.1320220106. PMID: 3901752

Therapy

Loudon BL, Noordali H, Gollop ND, Frenneaux MP, Madhani M
Br J Pharmacol 2016 Jun;173(12):1911-24. Epub 2016 May 6 doi: 10.1111/bph.13480. PMID: 26993743Free PMC Article
Alessandri JL, Isidor B, David A, Martin-Coignard D, Ghazouani J, Ramful D, Laville JM, Le Caignec C
Am J Med Genet A 2010 Nov;152A(11):2805-9. doi: 10.1002/ajmg.a.33633. PMID: 20949521
Gollop TR, Eigier A, Guidugli Neto J
Prenat Diagn 1987 May;7(4):295-8. doi: 10.1002/pd.1970070411. PMID: 3295847

Prognosis

Loudon BL, Gollop ND, Carter PR, Uppal H, Chandran S, Potluri R
Int J Cardiol 2016 Oct 1;220:745-9. Epub 2016 Jun 26 doi: 10.1016/j.ijcard.2016.06.188. PMID: 27393860
Loudon BL, Noordali H, Gollop ND, Frenneaux MP, Madhani M
Br J Pharmacol 2016 Jun;173(12):1911-24. Epub 2016 May 6 doi: 10.1111/bph.13480. PMID: 26993743Free PMC Article
Wada A, Nakamura T, Fujii T, Urano N, Yanagida H, Takamura K, Taketa M, Oketani Y, Kubota H
J Pediatr Orthop B 2013 Sep;22(5):457-63. doi: 10.1097/BPB.0b013e3283620640. PMID: 23660549
Bos CF, Taminiau AH
J Pediatr Orthop B 2007 Nov;16(6):409-13. doi: 10.1097/BPB.0b013e3282f057f3. PMID: 17909338
Gollop TR, Fontes LR
Am J Med Genet 1985 Sep;22(1):59-68. doi: 10.1002/ajmg.1320220106. PMID: 3901752

Clinical prediction guides

Gollop T, Dal Colletto GM, Ferraretto I, Grimaldi A
Prog Clin Biol Res 1982;104:269-77. PMID: 7163271

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