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Broad face

MedGen UID:
349223
Concept ID:
C1859680
Finding
Synonyms: Broad facies; Wide face
 
HPO: HP:0000283

Definition

Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). [from HPO]

Term Hierarchy

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

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
Mucopolysaccharidosis, MPS-I-S
MedGen UID:
6453
Concept ID:
C0026708
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Aspartylglucosaminuria
MedGen UID:
78649
Concept ID:
C0268225
Disease or Syndrome
Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
Recombinant 8 syndrome
MedGen UID:
167070
Concept ID:
C0795822
Disease or Syndrome
Recombinant chromosome 8 syndrome (Rec8 syndrome) is a chromosomal disorder found among individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations (Sujansky et al., 1993, summary by Graw et al., 2000).
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Oto-palato-digital syndrome, type II
MedGen UID:
337064
Concept ID:
C1844696
Disease or Syndrome
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Spondylocarpotarsal synostosis syndrome
MedGen UID:
341339
Concept ID:
C1848934
Disease or Syndrome
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Pierpont syndrome
MedGen UID:
356049
Concept ID:
C1865644
Disease or Syndrome
Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).
Intellectual disability, X-linked 97
MedGen UID:
440689
Concept ID:
C2749020
Mental or Behavioral Dysfunction
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.
Chromosome 2q37 deletion syndrome
MedGen UID:
419169
Concept ID:
C2931817
Disease or Syndrome
Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015).
CHROMOSOME 1p32-p31 DELETION SYNDROME
MedGen UID:
462386
Concept ID:
C3151036
Disease or Syndrome
Syndromic X-linked intellectual disability Nascimento type
MedGen UID:
477095
Concept ID:
C3275464
Disease or Syndrome
The Nascimento type of X-linked syndromic intellectual developmental disorder (MRXSN) is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female carriers have normal cognition, but may show subtle facial features (summary by Budny et al., 2010).
Rienhoff syndrome
MedGen UID:
816342
Concept ID:
C3810012
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
MedGen UID:
1648373
Concept ID:
C4748032
Disease or Syndrome
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) is an autosomal recessive disorder characterized by intellectual disability associated with ataxia (summary by Engel et al., 2023).
Autosomal recessive spinocerebellar ataxia 20
MedGen UID:
1684324
Concept ID:
C5190595
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).
Developmental and epileptic encephalopathy 31B
MedGen UID:
1841095
Concept ID:
C5830459
Disease or Syndrome
Developmental and epileptic encephalopathy-31B (DEE31B) is an autosomal recessive neurologic disorder with early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay (Yigit et al., 2022).

Professional guidelines

PubMed

Nosadini M, Thomas T, Eyre M, Anlar B, Armangue T, Benseler SM, Cellucci T, Deiva K, Gallentine W, Gombolay G, Gorman MP, Hacohen Y, Jiang Y, Lim BC, Muscal E, Ndondo A, Neuteboom R, Rostásy K, Sakuma H, Sharma S, Tenembaum SN, Van Mater HA, Wells E, Wickstrom R, Yeshokumar AK, Irani SR, Dalmau J, Lim M, Dale RC
Neurol Neuroimmunol Neuroinflamm 2021 Jul;8(5) Epub 2021 Jul 22 doi: 10.1212/NXI.0000000000001052. PMID: 34301820Free PMC Article
Stein JD, Khawaja AP, Weizer JS
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Oge' LK, Muncie HL, Phillips-Savoy AR
Am Fam Physician 2015 Aug 1;92(3):187-96. PMID: 26280139

Recent clinical studies

Etiology

Wang ZW, Kim HJ, Noh HK, Park HS
Am J Orthod Dentofacial Orthop 2024 Apr;165(4):447-457. Epub 2024 Jan 1 doi: 10.1016/j.ajodo.2023.10.019. PMID: 38165290
Salti L, Holtfreter B, Pink C, Habes M, Biffar R, Kiliaridis S, Krey KF, Bülow R, Völzke H, Kocher T, Daboul A
J Clin Periodontol 2017 Apr;44(4):363-371. Epub 2017 Feb 18 doi: 10.1111/jcpe.12661. PMID: 27930822
Kang M
Ann Plast Surg 2016 Jan;76(1):51-6. doi: 10.1097/SAP.0000000000000548. PMID: 26101994
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article
Deguchi M, Iio Y, Kobayashi K, Shirakabe T
Plast Reconstr Surg 1997 Jun;99(7):1831-9. doi: 10.1097/00006534-199706000-00005. PMID: 9180706

Diagnosis

Wang ZW, Kim HJ, Noh HK, Park HS
Am J Orthod Dentofacial Orthop 2024 Apr;165(4):447-457. Epub 2024 Jan 1 doi: 10.1016/j.ajodo.2023.10.019. PMID: 38165290
Jakobsen KV, Hunter BK, Simpson EA
Atten Percept Psychophys 2023 May;85(4):1106-1126. Epub 2023 Mar 14 doi: 10.3758/s13414-023-02685-6. PMID: 36918509
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article
Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM
Clin Dysmorphol 2000 Apr;9(2):87-91. doi: 10.1097/00019605-200009020-00002. PMID: 10826617
Deguchi M, Iio Y, Kobayashi K, Shirakabe T
Plast Reconstr Surg 1997 Jun;99(7):1831-9. doi: 10.1097/00006534-199706000-00005. PMID: 9180706

Therapy

Jakobsen KV, Hunter BK, Simpson EA
Atten Percept Psychophys 2023 May;85(4):1106-1126. Epub 2023 Mar 14 doi: 10.3758/s13414-023-02685-6. PMID: 36918509
Deguchi M, Iio Y, Kobayashi K, Shirakabe T
Plast Reconstr Surg 1997 Jun;99(7):1831-9. doi: 10.1097/00006534-199706000-00005. PMID: 9180706

Prognosis

Salti L, Holtfreter B, Pink C, Habes M, Biffar R, Kiliaridis S, Krey KF, Bülow R, Völzke H, Kocher T, Daboul A
J Clin Periodontol 2017 Apr;44(4):363-371. Epub 2017 Feb 18 doi: 10.1111/jcpe.12661. PMID: 27930822
Kang M
Ann Plast Surg 2016 Jan;76(1):51-6. doi: 10.1097/SAP.0000000000000548. PMID: 26101994

Clinical prediction guides

Salti L, Holtfreter B, Pink C, Habes M, Biffar R, Kiliaridis S, Krey KF, Bülow R, Völzke H, Kocher T, Daboul A
J Clin Periodontol 2017 Apr;44(4):363-371. Epub 2017 Feb 18 doi: 10.1111/jcpe.12661. PMID: 27930822
Wester U, Bondeson ML, Edeby C, Annerén G
Am J Med Genet A 2006 Jun 1;140(11):1164-71. doi: 10.1002/ajmg.a.31260. PMID: 16691587

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