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Oval face

MedGen UID:
336480
Concept ID:
C1849025
Finding
Synonyms: Oval facial shape; Oval facies
 
HPO: HP:0000300

Definition

A face with a rounded and slightly elongated outline. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOval face

Conditions with this feature

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MedGen UID:
98032
Concept ID:
C0406709
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Granulocytopenia with immunoglobulin abnormality
MedGen UID:
383874
Concept ID:
C1856263
Disease or Syndrome
Immunodeficiency-59 and hypoglycemia (IMD59) is an autosomal recessive primary immunologic disorder characterized by combined immunodeficiency and recurrent septic infections of the respiratory tract, skin, and mucous membranes, as well as disturbed glucose metabolism. Granulocytopenia and B-cell and dendritic cell deficiency are present (Haapaniemi et al., 2017).
Compton-North congenital myopathy
MedGen UID:
393406
Concept ID:
C2675527
Disease or Syndrome
Congenital myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Syndromic X-linked intellectual disability Najm type
MedGen UID:
437070
Concept ID:
C2677903
Disease or Syndrome
CASK disorders include a spectrum of phenotypes in both females and males. Two main types of clinical presentation are seen: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK. X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants. MICPCH is typically seen in females with moderate-to-severe intellectual disability, progressive microcephaly with or without ophthalmologic anomalies, and sensorineural hearing loss. Most are able to sit independently; 20%-25% attain the ability to walk; language is nearly absent in most. Neurologic features may include axial hypotonia, hypertonia/spasticity of the extremities, and dystonia or other movement disorders. Nearly 40% have seizures by age ten years. Behaviors may include sleep disturbances, hand stereotypies, and self biting. MICPCH in males may occur with or without severe epileptic encephalopathy in addition to severe-to-profound developmental delay. When seizures are present they occur early and may be intractable. In individuals and families with milder (i.e., hypomorphic) pathogenic variants, the clinical phenotype is usually that of XLID with or without nystagmus and additional clinical features. Males have mild-to-severe intellectual disability, with or without nystagmus and other ocular features. Females typically have normal intelligence with some displaying mild-to-severe intellectual disability with or without ocular features.
Developmental and epileptic encephalopathy, 39
MedGen UID:
414492
Concept ID:
C2751855
Disease or Syndrome
Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MedGen UID:
865814
Concept ID:
C4017377
Disease or Syndrome
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
Hypotonia, ataxia, and delayed development syndrome
MedGen UID:
934585
Concept ID:
C4310618
Disease or Syndrome
EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant. Although all affected children have DD noted in early infancy, intellect generally ranges from mild to severe ID, with two individuals functioning in the low normal range. Less common issues can include genitourinary abnormalities and gastrointestinal and/or musculoskeletal involvement. To date, 42 symptomatic individuals from 39 families have been reported.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
MedGen UID:
1373459
Concept ID:
C4317151
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
MedGen UID:
1648329
Concept ID:
C4748560
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-14 of the hair/tooth type (ECTD14) is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016). Rabie et al. (2022) tabulated the features of 24 patients with TSPEAR-associated ectodermal dysplasia, and found that of the various ectodermal derivatives, teeth were the most affected (82.6%), followed by hair (78.3%), nails (43.5%), and sweat glands (39.1%). The authors also noted that TSPEAR-associated dysmorphic facial features varied according to ethnic origin.
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
MedGen UID:
1710110
Concept ID:
C5394312
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020).
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
MedGen UID:
1786150
Concept ID:
C5543332
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020).
Radio-Tartaglia syndrome
MedGen UID:
1778557
Concept ID:
C5543339
Disease or Syndrome
Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Professional guidelines

PubMed

Dallara JM, Baspeyras M, Bui P, Cartier H, Charavel MH, Dumas L
J Cosmet Dermatol 2014 Mar;13(1):3-14. doi: 10.1111/jocd.12074. PMID: 24641600
Zhang WC, Zhong WX, Li ST, Zheng XS, Yang M, Shi J
Ir J Med Sci 2012 Mar;181(1):7-13. Epub 2011 Oct 14 doi: 10.1007/s11845-011-0770-9. PMID: 21997522
Kagami S, Asahina A, Watanabe R, Mimura Y, Shirai A, Hattori N, Watanabe T, Tamaki K
Lasers Med Sci 2007 Sep;22(3):159-63. Epub 2007 Jan 16 doi: 10.1007/s10103-006-0436-4. PMID: 17225059

Recent clinical studies

Etiology

La Padula S, Coiante E, Beneduce N, Valentini V, D'Andrea L, Giudice GL, Pensato R, Ungerer L, Hersant B, Meningaud JP
J Plast Reconstr Aesthet Surg 2023 Oct;85:425-435. Epub 2023 Jul 20 doi: 10.1016/j.bjps.2023.07.023. PMID: 37579653
Zheng Z, Hao Y, Yin J, Lei X, Cheng B, Huang W
Aesthet Surg J 2021 May 18;41(6):NP579-NP588. doi: 10.1093/asj/sjaa324. PMID: 33861312
Song IS, Kwon JS, Choi YJ, Ryu JJ, Lee UL
Aesthetic Plast Surg 2017 Aug;41(4):930-937. Epub 2017 Mar 31 doi: 10.1007/s00266-017-0837-8. PMID: 28364182
Li X, Hsu Y, Hu J, Khadka A, Chen T, Li J
J Oral Maxillofac Surg 2013 Oct;71(10):1761.e1-14. Epub 2013 Jul 24 doi: 10.1016/j.joms.2013.04.024. PMID: 23890784
Jin H, Park SH, Kim BH
Plast Reconstr Surg 2007 Feb;119(2):662-9. doi: 10.1097/01.prs.0000246520.49153.4d. PMID: 17230104

Diagnosis

Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC
Med Oral Patol Oral Cir Bucal 2006 May 1;11(3):E236-8. PMID: 16648759
Smith W, Ji HP, Mouradian W, Pagon RA
Am J Med Genet 1999 Sep 17;86(3):245-52. PMID: 10482874
Bradburn JM, Hall BD
Am J Med Genet 1995 Nov 6;59(2):234-7. doi: 10.1002/ajmg.1320590222. PMID: 8588592
Hunter AG, McAlpine PJ, Rudd NL, Fraser FC
J Med Genet 1977 Dec;14(6):430-7. doi: 10.1136/jmg.14.6.430. PMID: 342696Free PMC Article

Therapy

Zheng Z, Hao Y, Yin J, Lei X, Cheng B, Huang W
Aesthet Surg J 2021 May 18;41(6):NP579-NP588. doi: 10.1093/asj/sjaa324. PMID: 33861312
Anand C
J Drugs Dermatol 2016 Dec 1;15(12):1536-1542. PMID: 28095576
Wanitphakdeedecha R, Ungaksornpairote C, Kaewkes A, Rojanavanich V, Phothong W, Manuskiatti W
J Cosmet Dermatol 2016 Dec;15(4):452-457. Epub 2016 Sep 19 doi: 10.1111/jocd.12289. PMID: 27647769

Prognosis

Song IS, Kwon JS, Choi YJ, Ryu JJ, Lee UL
Aesthetic Plast Surg 2017 Aug;41(4):930-937. Epub 2017 Mar 31 doi: 10.1007/s00266-017-0837-8. PMID: 28364182
Li X, Hsu Y, Hu J, Khadka A, Chen T, Li J
J Oral Maxillofac Surg 2013 Oct;71(10):1761.e1-14. Epub 2013 Jul 24 doi: 10.1016/j.joms.2013.04.024. PMID: 23890784
Serra-Renom JM, Serra-Mestre JM
Ophthalmic Plast Reconstr Surg 2011 Nov-Dec;27(6):442-6. doi: 10.1097/IOP.0b013e318224b0d5. PMID: 21804434

Clinical prediction guides

La Padula S, Coiante E, Beneduce N, Valentini V, D'Andrea L, Giudice GL, Pensato R, Ungerer L, Hersant B, Meningaud JP
J Plast Reconstr Aesthet Surg 2023 Oct;85:425-435. Epub 2023 Jul 20 doi: 10.1016/j.bjps.2023.07.023. PMID: 37579653
Hajem N, Manzato L, Branchet MC, Herlin A, Hassanaly S, Huguet E, Himbert F, Bernard P, Dussert AS, Choulot JC, Boisnic S, Kéophiphath M
J Cosmet Dermatol 2021 Feb;20(2):691-702. Epub 2020 Jul 21 doi: 10.1111/jocd.13583. PMID: 32613704
Song IS, Kwon JS, Choi YJ, Ryu JJ, Lee UL
Aesthetic Plast Surg 2017 Aug;41(4):930-937. Epub 2017 Mar 31 doi: 10.1007/s00266-017-0837-8. PMID: 28364182
Anand C
J Drugs Dermatol 2016 Dec 1;15(12):1536-1542. PMID: 28095576
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC
Med Oral Patol Oral Cir Bucal 2006 May 1;11(3):E236-8. PMID: 16648759

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