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Small anterior fontanelle

MedGen UID:
347886
Concept ID:
C1859455
Finding
Synonym: Small anterior fontanel
 
HPO: HP:0000237

Definition

Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. [from HPO]

Term Hierarchy

Conditions with this feature

Trigonocephaly-short stature-developmental delay syndrome
MedGen UID:
374138
Concept ID:
C1839125
Disease or Syndrome
Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out.
Amish lethal microcephaly
MedGen UID:
375938
Concept ID:
C1846648
Disease or Syndrome
Amish lethal microcephaly is characterized by severe congenital microcephaly and highly elevated 2-ketoglutarate or lactic acidosis. The occipitofrontal circumference is typically more than two standard deviations (occasionally >6 SD) below the mean; anterior and posterior fontanels are closed at birth and facial features are distorted. The average life span of an affected infant is between five and six months among the Lancaster Amish, although an affected Amish-Mennonite child was reported to be living with severe developmental delay at age seven years.
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
MEND syndrome
MedGen UID:
905986
Concept ID:
C4085243
Disease or Syndrome
Male EBP disorder with neurologic defects (MEND) is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014).
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
MedGen UID:
1615361
Concept ID:
C4540493
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) is an autosomal recessive disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth, as well as postnatal progressive microcephaly. Most patients develop early-onset, frequent, and often intractable seizures, compatible with an epileptic encephalopathy. Other features include poor feeding, poor overall growth, absent speech, poor or absent eye contact, inability to achieve walking, hypotonia, and peripheral spasticity. Brain imaging usually shows progressive cerebral atrophy, thin corpus callosum, and abnormalities in myelination. Death in childhood may occur (summary by Siekierska et al., 2019).
Seckel syndrome 1
MedGen UID:
1637056
Concept ID:
C4551474
Disease or Syndrome
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel Syndrome Other forms of Seckel syndrome include SCKL2 (606744), caused by mutation in the RBBP8 gene (604124) on chromosome 18q11; SCKL4 (613676), caused by mutation in the CENPJ gene (609279) on chromosome 13q12; SCKL5 (613823), caused by mutation in the CEP152 gene (613529) on chromosome 15q21; SCKL6 (614728), caused by mutation in the CEP63 gene (614724) on chromosome 3q22; SCKL7 (614851), caused by mutation in the NIN gene (608684) on chromosome 14q22; SCKL8 (615807), caused by mutation in the DNA2 gene (601810) on chromosome 10q21; SCKL9 (616777), caused by mutation in the TRAIP gene (605958) on chromosome 3p21; SCKL10 (617253), caused by mutation in the NSMCE2 gene (617246) on chromosome 8q24; and SCKL11 (620767), caused by mutation in the CEP295 gene (617728) on chromosome 11q21. The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see History section.
Feingold syndrome type 1
MedGen UID:
1637716
Concept ID:
C4551774
Disease or Syndrome
Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Meier-Gorlin syndrome 1
MedGen UID:
1641240
Concept ID:
C4552001
Disease or Syndrome
The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.
Neurodevelopmental disorder with central and peripheral motor dysfunction
MedGen UID:
1674767
Concept ID:
C5193049
Disease or Syndrome
Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers (summary by Monfrini et al., 2019).

Professional guidelines

PubMed

Wendling-Keim DS, Macé Y, Lochbihler H, Dietz HG, Lehner M
Childs Nerv Syst 2020 Feb;36(2):363-371. Epub 2019 Jun 17 doi: 10.1007/s00381-019-04215-y. PMID: 31209640

Recent clinical studies

Etiology

Wendling-Keim DS, Macé Y, Lochbihler H, Dietz HG, Lehner M
Childs Nerv Syst 2020 Feb;36(2):363-371. Epub 2019 Jun 17 doi: 10.1007/s00381-019-04215-y. PMID: 31209640

Diagnosis

Ribeiro BG, Werner H, Lopes FPPL, Hygino da Cruz LC Jr, Fazecas TM, Daltro PAN, Nogueira RA
Radiographics 2017 Oct;37(6):1840-1850. doi: 10.1148/rg.2017170023. PMID: 29019762
Wayenberg JL
Acta Neurochir Suppl 1998;71:70-3. doi: 10.1007/978-3-7091-6475-4_22. PMID: 9779148
Silverthorn KG, Houston CS, Newman DE, Wood BJ
Pediatr Radiol 1989;19(4):237-41. doi: 10.1007/BF02386842. PMID: 2748230

Therapy

Rekate HL
Clin Neurosurg 1985;32:593-607. PMID: 2415285

Prognosis

Rekate HL
Clin Neurosurg 1985;32:593-607. PMID: 2415285

Clinical prediction guides

Wendling-Keim DS, Macé Y, Lochbihler H, Dietz HG, Lehner M
Childs Nerv Syst 2020 Feb;36(2):363-371. Epub 2019 Jun 17 doi: 10.1007/s00381-019-04215-y. PMID: 31209640
Ribeiro BG, Werner H, Lopes FPPL, Hygino da Cruz LC Jr, Fazecas TM, Daltro PAN, Nogueira RA
Radiographics 2017 Oct;37(6):1840-1850. doi: 10.1148/rg.2017170023. PMID: 29019762

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