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Small face

MedGen UID:
343376
Concept ID:
C1855538
Finding
Synonym: Small facies
 
HPO: HP:0000274

Definition

A face that is short and narrow. [from HPO]

Term Hierarchy

Conditions with this feature

Melnick-Needles syndrome
MedGen UID:
6292
Concept ID:
C0025237
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.
Dubowitz syndrome
MedGen UID:
59797
Concept ID:
C0175691
Disease or Syndrome
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.
Laron-type isolated somatotropin defect
MedGen UID:
78776
Concept ID:
C0271568
Disease or Syndrome
Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor. A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene (604260). Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271).
GAPO syndrome
MedGen UID:
98034
Concept ID:
C0406723
Disease or Syndrome
GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder.
Thanatophoric dysplasia, type 2
MedGen UID:
226975
Concept ID:
C1300257
Disease or Syndrome
Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.
Camptomelic dysplasia
MedGen UID:
354620
Concept ID:
C1861922
Disease or Syndrome
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.
Thanatophoric dysplasia type 1
MedGen UID:
358383
Concept ID:
C1868678
Disease or Syndrome
Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.
COG1 congenital disorder of glycosylation
MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Warsaw breakage syndrome
MedGen UID:
462008
Concept ID:
C3150658
Disease or Syndrome
Warsaw syndrome is characterized by the clinical triad of severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia. Intellectual disability is typically in the mild-to-moderate range. Severe speech delay is common. Gross and fine motor milestones are usually attained at the usual time, although a few individuals have mild delays. Additional common features include skeletal anomalies and cardiovascular anomalies. Abnormal skin pigmentation and genitourinary malformations have also been reported. Some individuals have had increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes treated with diepoxybutane and mitomycin C.
Chromosome 15q11.2 deletion syndrome
MedGen UID:
467404
Concept ID:
C3180937
Disease or Syndrome
A heterozygous deletion of chromosome 15q11.2 may increase the susceptibility to neuropsychiatric or neurodevelopmental problems, including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, and possibly seizures (summary by Doornbos et al., 2009 and Burnside et al., 2011). See also chromosome 15q11.2 duplication syndrome (608636).
Larsen-like syndrome, B3GAT3 type
MedGen UID:
480034
Concept ID:
C3278404
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.
Neurodevelopmental disorder with severe motor impairment and absent language
MedGen UID:
1622162
Concept ID:
C4540496
Mental or Behavioral Dysfunction
NEDMIAL is a neurodevelopmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development, sometimes with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017 and Mannucci et al., 2021).
Ehlers-Danlos syndrome, spondylodysplastic type, 1
MedGen UID:
1646889
Concept ID:
C4552003
Disease or Syndrome
Ehlers-Danlos syndrome spondylodysplastic type 1 (EDSSPD1) is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735).
Epilepsy, familial focal, with variable foci 4
MedGen UID:
1644614
Concept ID:
C4693694
Disease or Syndrome
SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE.

Professional guidelines

PubMed

Kazemi MH, Sadri M, Najafi A, Rahimi A, Baghernejadan Z, Khorramdelazad H, Falak R
Front Immunol 2022;13:1018962. Epub 2022 Oct 28 doi: 10.3389/fimmu.2022.1018962. PMID: 36389779Free PMC Article
Fu Y, Chapman EJ, Boland AC, Bennett MI
Palliat Med 2022 May;36(5):770-782. Epub 2022 Mar 20 doi: 10.1177/02692163221079697. PMID: 35311415Free PMC Article
Fisher E, Law E, Dudeney J, Palermo TM, Stewart G, Eccleston C
Cochrane Database Syst Rev 2018 Sep 29;9(9):CD003968. doi: 10.1002/14651858.CD003968.pub5. PMID: 30270423Free PMC Article

Recent clinical studies

Etiology

Jang H, Lee S, Jung G
Plast Reconstr Surg 2010 Oct;126(4):186e-188e. doi: 10.1097/PRS.0b013e3181ea9253. PMID: 20885214
Boutté MI
Soc Sci Med 1987;24(3):209-17. doi: 10.1016/0277-9536(87)90048-7. PMID: 3469765

Diagnosis

Shakeel M, Keh SM, Chapman A, Hussain A
J Coll Physicians Surg Pak 2014 Nov;24 Suppl 3:S238-9. PMID: 25518787
Aldemir O, Celik IH, Karaer K, Ceylaner G
Genet Couns 2013;24(4):357-60. PMID: 24551976
Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA
Indian J Pediatr 2009 Jul;76(7):745-6. Epub 2009 May 27 doi: 10.1007/s12098-009-0158-2. PMID: 19475342
Tsao PN, Teng RJ, Hwu WL, Tsou Yau KI, Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996 Sep-Oct;37(5):381-3. PMID: 8942036

Therapy

Thapthim-On M, Chaiear N, Mitsungnern T
J Infect Public Health 2024 Feb;17(2):204-211. Epub 2023 Nov 22 doi: 10.1016/j.jiph.2023.11.023. PMID: 38113817

Prognosis

Zimmerman DD, Roudebush B
J Insur Med 2012;43(1):5-9. PMID: 22397125
Jang H, Lee S, Jung G
Plast Reconstr Surg 2010 Oct;126(4):186e-188e. doi: 10.1097/PRS.0b013e3181ea9253. PMID: 20885214
Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA
Indian J Pediatr 2009 Jul;76(7):745-6. Epub 2009 May 27 doi: 10.1007/s12098-009-0158-2. PMID: 19475342
Tsao PN, Teng RJ, Hwu WL, Tsou Yau KI, Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996 Sep-Oct;37(5):381-3. PMID: 8942036

Clinical prediction guides

Adel M, Yamaguchi T, Tomita D, Nakawaki T, Kim YI, Hikita Y, Haga S, Takahashi M, Nadim MA, Kawaguchi A, Isa M, El-Kenany WH, El-Kadi AA, Park SB, Ishida H, Maki K, Kimura R
PLoS One 2017;12(1):e0170645. Epub 2017 Jan 27 doi: 10.1371/journal.pone.0170645. PMID: 28129408Free PMC Article
Aldemir O, Celik IH, Karaer K, Ceylaner G
Genet Couns 2013;24(4):357-60. PMID: 24551976
Gambhir PS, Gambhir S
Am J Med Genet A 2011 Mar;155A(3):586-8. Epub 2011 Feb 18 doi: 10.1002/ajmg.a.33451. PMID: 21337684
Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA
Indian J Pediatr 2009 Jul;76(7):745-6. Epub 2009 May 27 doi: 10.1007/s12098-009-0158-2. PMID: 19475342
Bazopoulou-Kyrkanidou E, Vrahopoulos TP, Eliades G, Vastardis H, Tosios K, Vrotsos IA
J Periodontol 2007 Sep;78(9):1831-8. doi: 10.1902/jop.2007.060385. PMID: 17760556

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