Large Anterior Fontanels: Causes & Reasons

Possible Causes for Large Anterior Fontanels

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

anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological [scinapse.io]

anterior fontanelle (soft spot in the skull of newborns and young babies), epicanthal folds (extra skin over the inside corner of the eye), microcephaly (small head), and [my46.org]

For instance, a syndrome characterized by distinct dysmorphic features, such as large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge [karger.com]

Oculopalatoskeletal Syndrome

At birth she was noted to have a large anterior fontanelle, downslanting palpebral fissures, bilateral corneal clouding, and small ears. [cags.org.ae]

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 [ncbi.nlm.nih.gov]

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]

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]

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]

A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel [freemedart.ru]

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

Donnai-Barrow Syndrome

Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, [ncbi.nlm.nih.gov]

On examination, he had large anterior fontanelle, V-shaped hairline at center of forehead (widow’s peak), wide metopic suture, hypertelorism, iris coloboma, down slanted palpebral [link.springer.com]

DBS/FOAR is characterized by specific facial features such as a V-shaped point in the hairline in the middle of the forehead (Widow’s peak), large anterior fontanelle, wide [cureus.com]

FG Syndrome Type 3

[…] head * Large anterior fontanel * Prominent forehead * Frontal hair upsweep * Widely spaced eyes * Prominent lower lip * Small ears * Simple ears * Face wrinkles * Fine hair [checkorphan.org]

Abnormal EEG * Seizures * Strabismus * Hyperactivity * Short attention span * Affable personality * Extroverted personality * Temper tantrums when frustrated * Short stature * Large [checkorphan.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]

[…] arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema Head And Neck Ears: posteriorly rotated ears small ears Head And Neck Head: large [malacards.org]

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]

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]

Kenney-Caffey Syndrome

Additionally, individuals also have an abnormally large head circumference (macrocephaly) with a prominent forehead due to an abnormally large anterior fontanelle that closes [en.wikipedia.org]

[…] macrocephaly, frontal bossing, delayed closure of anterior fontanel, wide metopic suture and absent diploic space in the skull. [eurorad.org]

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]

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]

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]

Autosomal Recessive Cutis Laxa Type 2A

Generalized cutis laxa, brittle hair, microcephaly, large anterior fontanel (6 × 5 cm), midfacial hypoplasia, anteverted nares, down-slanting palpebral fissures, epicanthal [nature.com]

fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set [findexpertmd.com]

wide open anterior fontanelle, medial epicanthal folds, depressed nose, long philtrum, and small mouth [Figure 1a]. [ncbi.nlm.nih.gov]

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]

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]

Opitz-Kaveggia Syndrome

[…] for length or height, with or withoutlarge anterior fontanelle; Defects in sensory integration; oral tactile aversion. [litfl.com]

[…] criteria (present in 50% or more of FGS children): Congenital hypotonia, developmental delay with speech delay worse than motordelay; Head circumference disproportionately large [litfl.com]

Costello Syndrome

Costello syndrome is a mental retardation syndrome characterized by high birth weight, postnatal growth retardation, coarse face, loose skin, cardiovascular problems, and tumor predisposition. De novo heterozygous missense mutations in HRAS codon 12 and 13 disturbing the intrinsic GTP hydrolysis cause Costello[…] [ncbi.nlm.nih.gov]

Velocardiofacial Syndrome

Overview Background Velocardiofacial syndrome (VCFS) is a genetic condition characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and the conotruncal region of the heart. Shprintzen and colleagues first described the syndrome in 1978. [1] Its[…] [emedicine.medscape.com]

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]

Clinical description Facial characteristics include triangular face with a relatively large skull, large anterior fontanelle, prominent veins especially on the scalp, sparse [orpha.net]

Zellweger Syndrome

Newborns dysmorphic craniofacial features (flattened facies, large anterior fontanelle, open sutures, high and prominent forehead, flattened occiput, upward slanting palpebral [tellmegen.com]

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]

Kenny-Caffey Syndrome Type 1

anterior fontanel * Underdeveloped nails * Narrow long-bone shafts * Thickening of long bones * Thin marrow bone cavities of long bones * Craniofacial disproportion * Transient [checkorphan.org]

Signs and Symptoms: Low birth weight Low calcium levels Abnormally large anterior fontanel, which is the tissue covering the joint between the bones of the head. [amazingwristbands.com]

Tetanic convulsions * Delayed physical development * Myopia * Small eyes * Farsightedness * Swelling of optic disk * Vascular tortuosity * Macular crowding * Dwarfism * Large [checkorphan.org]

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]

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]

anterior fontanel, glaucoma, and impaired hearing. [bcm.edu]

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]

Pseudo-Zellweger Syndrome

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

This patient presented with seizures at the time of birth and had classical findings suggestive of Zellweger syndrome including generalized hypotonia, large anterior fontanelle [neurologyindia.com]

These defects include hypoplastic supraorbital ridges, epicanthal folds, a small nose with anteverted nares, a broad nasal bridge, full forehead, and large anterior fontanelle [themedicalbiochemistrypage.org]

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]

SIX2-Related Frontonasal Dysplasia

Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described. [malacards.org]

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

Orphanet: 58 A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus [malacards.org]

FG Syndrome Type 2

Test Method Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes Pricing Comments This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically[…] [preventiongenetics.com]