Large Anterior Fontanels: Causes & Reasons

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Possible Causes for Large Anterior Fontanels

Acrocallosal Syndrome

anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth [ncbi.nlm.nih.gov]

Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia [ncbi.nlm.nih.gov]

These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis of the corpus callosum, polysyndactyly [ncbi.nlm.nih.gov]

Monosomy 1p36 Syndrome

[…] and late-closing anterior fontanel [2-4]. [enlivenarchive.org]

anterior fontanelle, prominent forehead, deep set eyes, flat nasal bridge and midface hypoplasia, ear asymmetry, a pointed chin, and orofacial clefting. [jmg.bmj.com]

anterior fontanelle, 2 4 8-10 19 prominent forehead (also described as bossed or broad/long), 4 6 10 11 18 19 deep set eyes, 6 9 13 17 19 and short, narrow, or slanting palpebral [jmg.bmj.com]

Autosomal-Recessive Robinow Syndrome

Symptoms - Robinow syndrome- autosomal recessive * Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing Causes - Robinow syndrome- [checkorphan.org]

anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge [databases.lovd.nl]

[…] hypoplasia Robinow syndrome DRS1 Isolated (sporadic) - - - - - Johan den Dunnen 00311877 0000237127 see paper; ..., short stature, mesomelic limb shortening, brachydactyly, large [databases.lovd.nl]

Oculopalatoskeletal Syndrome

anterior fontanelles, [7] severe axial dystonia [5] poor speech, mild psychomotor retardation and a bilateral conductive hearing loss, [5] which were all present in varying [ijo.in]

8] This was absent in our case (except for micrognathia), but has been reported in some previous reports of Michels syndrome. [1], [2], [3], [4], [5], [6], [8] Some have large [ijo.in]

Congenital Non-Goitrous Hypothyroidism Type 4

Within the first month after birth, the patient manifested feeding difficulties, lethargy, persistent jaundice, umbilical hernia, and large anterior and open posterior fontanels [ncbi.nlm.nih.gov]

[…] head with swollen limbs and genitalia Large anterior fontanelle Cold and mottled skin especially on the extremities Flattened or broadened nose associated with nasal obstruction [dermnetnz.org]

Hypotonia and lethargy Feeding difficulties, resulting in poor weight gain and failure to thrive Constipation Hoarse cry with reduced frequency of crying Puffy appearance; large [dermnetnz.org]

Chromosome 16q22 Deletion Syndrome

anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. [malacards.org]

anterior fontanelle, hypertelorism, broad nasal bridge, low set and dysplastic ears, cleft palate, micrognathia, short neck, narrow thorax, broad first toes, mental retardation [jmg.bmj.com]

[…] multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large [malacards.org]

Sener Syndrome

anterior fontanelle [malacards.org]

Dysmorphic features noted at birth included hypertelorism, a persistent large posterior fontanelle, a large anterior fontanelle, a narrow, high arched palate with midline [jmg.bmj.com]

fontanel Wider-than-typical soft spot of skull 0000260 Wide mouth Broad mouth Large mouth [ more ] 0000154 Showing of 25 | Last updated: 5/1/2019 If you need medical advice [rarediseases.info.nih.gov]

Rubinstein-Taybi Syndrome

anterior fontanelle (41%), microcephaly (35%), Small mouth, persistent fetal finger pads (31%), duplicated longitudinal bracketed epiphysis (kissing delta phalanx), syndactyly [faoj.org]

Case report: A 4 years old girl, with neonatal diagnosis of enlarged anterior and posterior fontanelle, presented to the pediatric department for an episode of loss of consciousness [docksci.com]

[…] speech difficulties (90%), hypotonia (67%), hirsutism (75%), capillary nevus of the forehead or the nape (>50%), and cryptorchidism (78% of males). [3] Also described are large [faoj.org]

Campomelic Dysplasia

anterior fontanelle macrocephaly enlarged skull (large head) elongated skull large neurocranium small chondocrnium high forehead flat face small face micrognathia +/- Robin [humpath.com]

Large anterior fontanelle; Macrocephaly; High forehead; Flat, small face; Micrognathia; Low-set ears; Hearing loss; Hypertelorism; Short palpebral fissures; Depressed nasal [ibis-birthdefects.org]

[…] anomalies short limb dwarfism, prenatal onset birth length 35-49 cm low-normal range birth weight failure to thrive in survivors polyhydramnios (+/- 30%) craniofacial anomalies large [humpath.com]

Cerebro-Facio-Articular Syndrome

His anterior fontanelle was large. He had bilateral microtia ( Figure 1k ). He also had hypospadias and a sacral dimple. [nature.com]

A skeletal survey confirmed similar changes to his brother with a large anterior fontanelle and thickened but not sclerotic frontal bones. [nature.com]

Both anterior and posterior fontanelles were large. She required a tracheostomy for tracheomalacia, long-term nasal CPAP and a gastrostomy for feeding difficulties. [nature.com]

Dermatosparaxis

At birth, a right femoral fracture, bilateral dislocation of the hips, extreme joint hypermobility (especially the knees), large anterior and posterior fontanelles, and frontal [jmg.bmj.com]

Cerebellotrigeminal Dermal Dysplasia

Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. [ihop-net.org]

Unilateral coronal synostosis is a frequently seen form of craniosynostosis that results in an anterior plagiocephalic shape to the ipsilateral forehead and orbit. [ihop-net.org]

Autosomal Recessive Cutis Laxa Type 2A

wide open anterior fontanelle, medial epicanthal folds, depressed nose, long philtrum, and small mouth [Figure 1]a. [idoj.in]

Patients with ARCL type II and children with WSS have generalized skin abnormalities and a large, open fontanel, commonly associated with microcephaly. [nature.com]

Child had dysmorphism in the form of sagging cheeks, maxillary hypoplasia, prognathism, posteriorly placed large and low set ears, hypertelorism, down slanting palpebral fissures [idoj.in]

FG Syndrome Type 4

fontanel Wider-than-typical soft spot of skull 0000260 Wide mouth Broad mouth Large mouth [ more ] 0000154 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened [rarediseases.info.nih.gov]

[…] vermilion Increased volume of lower lip Plump lower lip Prominent lower lip [ more ] 0000179 Umbilical hernia 0001537 Underdeveloped superior crus of antihelix 0011246 Wide anterior [rarediseases.info.nih.gov]

Opitz-Kaveggia Syndrome

Kenney-Caffey Syndrome

However, in KCS2, the anterior fontanel is abnormally large, closes late, and a fibrous joint between the bones in the forehead (metopic suture) is spaced wider than usual [rarediseases.org]

The anterior fontanel is a soft, membrane-covered area between the bones of an infant’s skull that usually closes about 18 months after birth. [rarediseases.org]

Costello Syndrome

Costello syndrome is characterised by dwarfism, unique cutaneous lesions, a distinct facial gestalt, and mental retardation. There have been no detailed reports of severe spinal deformities requiring surgical treatment as a complication of Costello syndrome. We report a case of a 10-year-old girl with progressive[…] [ncbi.nlm.nih.gov]

Velocardiofacial Syndrome

Velocardiofacial or 22q11 deletion syndrome is a genetic condition caused by deletion 22q11, the deletion of a small segment of the long arm of chromosome 22. To our knowledge this is the first case report of a woman with Velocardiofacial syndrome presenting in late pregnancy for caesarean delivery. She had[…] [ncbi.nlm.nih.gov]

Wiedemann-Rautenstrauch Syndrome

Clinical description Dysmorphism includes triangular old-looking face, relatively large skull with large anterior fontanelle and prominent veins especially on the scalp, sparse [orpha.net]

Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins and muscles, a large and persistent anterior fontanelle [lib.ugent.be]

Robinow Syndrome

In this figure of the same infant note the marked frontal bossing, the large anterior fontanelle, the short nose, long philtrum, and micrognathia. 3.39 Figure 3.39. [rrnursingschool.biz]

—A 9-month-old black female infant with a negative family history and bilateral epiphora since birth had macrocrania, a large anterior fontanelle, frontal bossing, hypertelorism [jamanetwork.com]

These infants have slight to moderate shortness of stature, macro-cephaly, a large anterior fontanelle, and frontal bossing with apparent hyper-telorism, a short nose with [rrnursingschool.biz]

Zellweger Syndrome

Infants with Zellweger syndrome present with flattened facies, large anterior fontanel, split sutures, a prominent high forehead, a flattened occiput, upslanting palpebral [ela-asso.com]

Infants present with characteristic dysmorphic craniofacial features (flattened facies, large anterior fontanel, split sutures, prominent high forehead, flattened occiput, [orpha.net]

Zellweger syndrome [ zel´weg-er ] an autosomal recessive inborn error of metabolism characterized by a prominent forehead, large anterior fontanelle, poor muscle tone, hepatomegaly [medical-dictionary.thefreedictionary.com]

High Myopia-Sensorineural Deafness Syndrome

Of 20 patients, 19 showed positive signs of a large anterior fontanelle while only one showed no sign of a large anterior fontanelle. [musicboys.wordpress.com]

The younger sister has left-sided diaphragmatic hernia, severe hypertelorism, anomalies of corpus callosum, large anterior fontanel, and hearing loss. [cags.org.ae]

Even in an instance when a patient is found to have an anterior congenital diaphragmatic hernia, agenesis of the corpus callosum, a large anterior fontanelle, or any other [musicboys.wordpress.com]

Peroxisome Biogenesis Disorder Type 2B

Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. [ncbi.nlm.nih.gov]

FIGURE 1 Facial dysmorphism (high forehead, large anterior fontanelle, hypoplastic supraorbital ridges, epicanthal folds, and deformed earlobes) in the patient with IRD. [pediatrics.aappublications.org]

It affects many parts of the body, including: Head and face: enlarged head; high forehead; large anterior fontanelle ("soft spot"); malformed earlobes; flat-looking face Brain [verywell.com]

Thanatophoric Dysplasia

Physical findings: • Growth deficiency of limbs of less than 5%; • Platyspondyly of the vertebrae; • Large anterior fontanel; ICD-9: 756.4 TREATMENT Treatment measures of [secure.ssa.gov]

Physical findings: • Growth deficiency of limbs of less than 5%; • Platyspondyly of the vertebrae; • Large anterior fontanel; ICD-9: 756.4 PROGRESSION Newborns with TD1 are [secure.ssa.gov]

Neonates are macrocephalic with a large anterior fontanelle, frontal bossing, severe midface hypoplasia and proptosis. The thorax is narrow and bell-shaped. [orpha.net]

Frontonasal Dysplasia

We report a family with a dominantly inherited craniofacial phenotype comprised of frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior [ncbi.nlm.nih.gov]

A very large anterior fontanelle with delayed closure was present in 6/18. [nature.com]

fontanelle, cranial base anomalies, and sagittal synostosis. [ncbi.nlm.nih.gov]

Juvenile Cystinosis

الصفحة 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal [books.google.com]

Seite 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal [books.google.de]

Isolated Arhinencephaly

There were bilateral cloudy corneas and congenital cataracts, a large anterior fontanelle and large metopic sutures. Karyotype was normal and MRI of the head was normal. [rrnursingschool.biz]

Aarskog-Scott Syndrome

anterior fontanel. ( 27544718 ) ParA+ltay E....A9zkan B. 2016 7 Identifying Aarskog Syndrome. ( 28209013 ) Ahmed A...Hasoon U 2016 8 Identification of novel mutations in [malacards.org]

anterior fontanel. ( 27544718 ) ParA+ltay E....A9zkan B. 2016 6 Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 ) PAcrez-Coria [malacards.org]

Clinical description In ACS, craniofacial anomalies include macrocephaly with protruding forehead and occiput, hypertelorism, large anterior fontanel, short mandible and nose [orpha.net]

MEND Syndrome

anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis [orpha.net]

[…] disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large [orpha.net]

Humeroradial Synostosis with Craniofacial Anomalies

Both girls had a very large anterior fontanel, cranium bifidum occultum, and plagiocephaly, but no craniosynostosis. [findzebra.com]

Evaluation at 6-months of age confirmed this distinctive craniofacial appearance, which was characterized by a very large anterior fontanel, cranium bifidum occultum, high [cags.org.ae]

Craniofacial abnormalities found were brachycephaly (cephalic index=95.45), frontal bossing, large anterior fontanel, open metopic suture, synostosis in sagittal and lambdoid [jcnonweb.com]