Pointed Chin: Causes & Reasons

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Possible Causes for Pointed Chin

Mowat-Wilson Syndrome

Mowat-Wilson syndrome: a genetic ( inherited ) condition present at birth that features square-shaped face with deep-set, widely spaced eyes, a broad nasal bridge, pointed [medicinenet.com]

chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular [ncbi.nlm.nih.gov]

They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. [malacards.org]

Sotos Syndrome

The oral findings commonly seen with Sotos syndrome include: premature eruption of teeth; high, arched palate; pointed chin; and, more rarely, prognathism. [ncbi.nlm.nih.gov]

chin, and abnormalities of the pinna. [ncbi.nlm.nih.gov]

chin 6 mental retardation and developmental delay It is an autosomal dominant syndrome with the majority of cases being described as sporadic 5. [radiopaedia.org]

Monosomy 1p36 Syndrome

chin. [ncbi.nlm.nih.gov]

chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. [ncbi.nlm.nih.gov]

[…] is characterized by typical craniofacial features consisting of straight eyebrows, deep-set eyes, midface hypoplasia, wide and depressed nasal bridge, long philtrum, and pointed [genome.jp]

Frontometaphyseal Dysplasia

chin (Fig 2). [jamanetwork.com]

chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Scapular winging Winged shoulder blade 0003691 Selective tooth agenesis 0001592 Short chin Decreased height [rarediseases.info.nih.gov]

[…] well-nourished boy with a marked supraorbital ridge, slight facial asymmetry, wide nasal bridge, mild antimongoloid obliquity, hirsutism above the eyebrows, and a small pointed [jamanetwork.com]

3M Syndrome

The characteristic features, present at birth are: a relatively large head, dolichocephaly, frontal bumps (Fig. 1 a and b), a triangular face, a pointed chin (Fig. 1 a), an [indianpediatrics.net]

chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Short thorax Shorter than typical length between [rarediseases.info.nih.gov]

The characteristic facial features are: relatively large head, dolichocephaly, frontal bossing, a triangular face, pointed chin, upturned nose, full lips, full eyebrows, long [scielo.conicyt.cl]

3M Syndrome Type 3

Characteristic facial features include: triangular-shaped face, frontal bossing, hypoplastic midface, fleshy tipped nose, prominent mouth and lips and pointed chin. [orpha.net]

In addition, the forehead may be abnormally prominent (frontal bossing), and the face may be triangular shaped with a prominent, pointed chin. [rarediseases.org]

Chromosome 22q13.3 Deletion Syndrome

People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and [medlineplus.gov]

chin. [rarediseases.org]

[…] ears, full brow, deep set eyes, long eyelashes, full or puffy eyelids, droopy eyelids (ptosis), flat midface, full or puffy cheeks, wide nasal bridge, bulbous nose, and pointed [rarediseases.org]

Costello Syndrome

chin Prominent tongue Full cheeks and lips with a wide mouth Characteristic hands Hypermobile with ulnar deviation Splayed fingers with spatulate tips Orthopaedic problems [dermnetnz.org]

Macrocephaly with a high forehead Bitemporal narrowing Large-cupped and posteriorly rotated ears with folded earlobes Flat nasal bridge with epicanthic folds Square mandible with a pointed [dermnetnz.org]

Alagille Syndrome

And so i googled what is Pinned Chin. See the pointed chin? In sooth should include broadened forehead, pointed chin, and elongated nose with bulbous tip. [dayre.me]

chin, broad forehead, long, straight nose, deep-set eyes, posterior embryotoxon in the eye, cardiovascular abnormalities, vertebral defects, and nephropathy. [medical-dictionary.thefreedictionary.com]

/ pinned chin. [dayre.me]

Congenital Muscular Torticollis

How to do the exercises Stretching, head points to the right, chin to the left slide 1 of 8 slide 1 of 8, Stretching, head points to the right, chin to the left, If your baby's [myhealth.alberta.ca]

His chin points to one shoulder while his head tilts towards the opposite shoulder. [livingandloving.co.za]

Congenital torticollis tilts the head to the side on which the neck muscles are shortened, so that the chin points to the other side. [medicinenet.com]

Baraitser-Winter Syndrome

chin; structural abnormalities of the brain might also be present. http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome References: GARD:5279 ICD10CM:Q87.0 OMIM:243310 [zfin.org]

Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and [ajol.info]

chin; structural abnormalities of the brain might also be present. [informatics.jax.org]

BOD Syndrome

chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large [rarediseases.info.nih.gov]

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly [ncbi.nlm.nih.gov]

chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. [orbi.uliege.be]

3M Syndrome Type 1

chin, long philtrum, fleshy tipped nose, midface hypoplasia and frontal bossing. [3msyndrome.wordpress.com]

chin. [ncbi.nlm.nih.gov]

chin, large ears, and/or abnormally flat cheeks. [healthetreatment.com]

Goldberg-Shprintzen Syndrome

One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias [diseaseinfosearch.org]

chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). [orpha.net]

[…] arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed [orpha.net]

Russell-Silver Syndrome

She had a triangular face with prominent forehead, large eyes, a thin nose, malar hypoplasia, thin upper lip with down-turned corner of the mouth and a pointed chin. [ncbi.nlm.nih.gov]

The wide prominent forehead contrasts with the small, triangular face with a small pointed chin, a wide mouth with thin lips and down-turned corners, large eyes and bluish [orpha.net]

Congenital Aural Atresia

chin Popliteal pterygium Ptosis Respiratory insufficiency Short stature Telecanthus Umbilical hernia Vertebral segmentation defect Abnormality of female external genitalia [familydiagnosis.com]

People with focal dermal hypoplasia often have distinctive, but subtle facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the [xpertdox.com]

They classically have broad forehead, pointed chin, and elongated nose with bulbous tip. [indianjotol.org]

Torticollis

His chin points to one shoulder while his head tilts towards the opposite shoulder. [livingandloving.co.za]

The chin points to one shoulder, while the head tilts toward the opposite shoulder. [uofmhealth.org]

“Usually the head tilts to the right and the chin points left, meaning the muscle on the right side is affected,” explains WebMD. [livingandloving.co.za]

Watson Syndrome

As for the physical manifestation, those with AWS have the same facial features which includes broad forehead, small & pointed chin & deep-set eyes. [signssymptoms.org]

As for the physical manifestation, those with AWS have the same facial features which includes broad forehead, small and pointed chin and deep-set eyes. [medigest.uk]

Partial Trisomy 4p Syndrome

chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel. [ncbi.nlm.nih.gov]

chin). [orpha.net]

[…] overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed [ncbi.nlm.nih.gov]

Congenital Malformation of the Inner Ear

chin - Small / triangular nares / nostrils Occasional - Anodontia / oligodontia / hypodontia - Bifid / cleft ear lobe / ear lobe pits - Hypermetropia - Hypertelorism - Long [csbg.cnb.csic.es]

Broad nasal root - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Long face - Micrognathia / retrognathia / micrognathism / retrognathism - Pointed [csbg.cnb.csic.es]

Sotos Syndrome Type 1

Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. [malacards.org]

chin, a long narrow face and a head shape that is similar to an inverted pear. [rarediseases.org]

Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. [malacards.org]

3M Syndrome Type 2

Autosomal Dominant Mental Retardation Type 29

Autosomal Recessive Mental Retardation Type 15

Colpocephaly

chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration; normal vision; no hypotonia; birth feeding [databases.lovd.nl]

SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4 11 1 Gijs Santen 00001532 - - - F - - - - - - - CSS brith 40w+5, weight SD -1; hypopigmented patch, triangular face, pointed [databases.lovd.nl]

chin; sensitive to light; generalized hypotonia; birth feeding problems; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed [databases.lovd.nl]

Luscan-Lumish Syndrome

Abnormality of head or neck Downslanted palpebral fissures High anterior hairline High forehead Long face Long nose Macrocephalus Malar flattening Mandibular prognathia Pointed [ncbi.nlm.nih.gov]

Pointed chin MedGen UID: 336193 •Concept ID: C1844505 • Finding A marked tapering of the lower face to the chin. [ncbi.nlm.nih.gov]

Facial features included sparse hair, prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and a pointed chin. [karger.com]

Familial Osteodysplasia

chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly [malacards.org]

Midfacial hypoplasia and a pointed chin are characteristic. Alveolar and sutural bone growth in the face is diminished and associated with partial dental agenesis. [ncbi.nlm.nih.gov]

[…] rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed [malacards.org]

Microcephaly - Chorioretinopathy - Lymphedema - Mental Retardation

chin, and prominent ears. [karger.com]

chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307 42 underdeveloped supraorbital ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0009891 43 wide nose 58 31 [malacards.org]

Mild dysmorphic features including broad nose with rounded tip, pointed chin, and prominent ears were noted. [n.neurology.org]

Trisomy 15q

He had facial asymmetry, strabismus involving the left eye, narrow down-slanting palpebral fissures, prominent nose, overhanging columella, long philtrum, small pointed chin [pediatricneurosciences.com]

She was mildly dysmorphic with a large head and frontal bossing, an elongated face, slight midface retraction, a pointed chin, and small low-set ears. [nature.com]

Long face, puffy cheeks, long philtrum, pointed chin and prominent occiput have also been reported (1, 3, 35, 40, 43, 49, 52, 59). [ec.bioscientifica.com]

Deafness-Epiphyseal Dysplasia-Short Stature Syndrome

chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Short neck Decreased length of neck 0000470 Short thorax Shorter than typical length between neck and abdomen [rarediseases.info.nih.gov]

chin) and bilateral obstruction of lacrimal ducts.Genetic counselingThis syndrome is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources [malacards.org]

Clinical description They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. [rarediseases.info.nih.gov]