Small Face: Causes & Reasons

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Possible Causes for Small Face

Dubowitz Syndrome

Craniofacial anomalies may include microcephaly (with head circumference below the third percentile), premature craniosynostosis, distinctive, small face with high forehead [accessanesthesiology.mhmedical.com]

For example, many people affected by the disease have a small face and head. Sometimes they have a high forehead that slopes as well. [wisegeek.net]

[…] is a very rare genetic and developmental disorder with a range of signs and symptoms, including, growth failure/short stature, characteristic facial features (such as a small [dovemed.com]

Donohue Syndrome

She presented not only polydipsia, polyphagia, and weight loss but also small elfin face, distended abdomen, enlarged clitoris, hypertrichosis, acanthosis nigricans of the [ncbi.nlm.nih.gov]

face Short and narrow face Small facies [ more ] 0000274 Wide mouth Broad mouth Large mouth [ more ] 0000154 Showing of 61 | Last updated: 5/1/2019 Making a diagnosis for [rarediseases.info.nih.gov]

Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. [icd10data.com]

Thanatophoric Dysplasia Type 2

[…] squared iliac wings may show trident acetabula Chest narrow chest short horizontal ribs small scapulae Skull and face relative macrocephaly frontal bossing proptosis nasal [radiopaedia.org]

[…] giving a rhizomelic appearance long bones (typically humeri and femora) have a typical "telephone handle" bowing with metaphyseal flaring Iliac bones usually hypoplastic small [radiopaedia.org]

Warsaw Breakage Syndrome

face Wide mouth Abnormality of limbs 2-3 toe syndactyly Single transverse palmar crease Abnormality of the cardiovascular system ... ... [familydiagnosis.com]

face ; Tetralogy of Fallot ; Ventricular septal defect ; Wide mouth Associated Genes DDX11 (Withdrawn symbols: CHL1, CHLR1, ChlR1, KRG2, WABS ) Mouse Orthologs Ddx11 (Withdrawn [mousephenotype.org]

Clinical features [ edit ] These include Severe pre- and postnatal growth retardation Microcephaly Intellectual disability Dysmorphic features Small and elongated face Narrow [en.wikipedia.org]

Ehlers-Danlos Syndrome Spondylodysplastic Type 2

face Short and narrow face Small facies [ more ] 0000274 Showing of 64 | Last updated: 7/1/2019 Spondylodysplastic Ehlers-Danlos syndrome (spEDS) can be caused by changes [rarediseases.info.nih.gov]

face Gingivitis Genu recurvatum Short clavicles Proportionate short stature Atrophic scars Bilateral cryptorchidism Radioulnar synostosis Accelerated skeletal maturation [mendelian.co]

[…] hypoplasia, low-set ears, small mouth, and defective enamel. [cags.org.ae]

Multiple Joint Dislocations - Short Stature - Craniofacial Dysmorphism

Thanatophoric Dysplasia Type 1

Permanent link : http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19830753 Other title Prenatal diagnosis of thanatophoric dwarfism (en) Author DESRENTES, M; KONDE, L; LAUROY, J; DAO, B; DIOUF, A; MENDES, V CHU Le Dantec, clin. obstétricale, Dakar, Senegal Hôp. principal, serv. imagerie médicale,[…] [pascal-francis.inist.fr]

Crane-Heise Syndrome

Symptoms - Crane-Heise syndrome * Delayed fetal development * Large head * Widely spaced eyes * Depressed nasal bridge * Small face Causes - Crane-Heise syndrome Cleft lip [checkorphan.org]

The first-born sib showed disproportionately large head with small face, depressed nasal bridge with anteverted nares, micrognathia, apparent ocular hypertelorism, low-set [omim.org]

This complex polymalformative syndrome with severe intrauterine growth retardation may involve the head and neck (macrocephaly with disproportionate small face, deficient [accessanesthesiology.mhmedical.com]

Russell-Silver Syndrome

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]

[…] triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait spots. [medical-dictionary.thefreedictionary.com]

[…] syndrome Russell-Silver dwarfism Pediatrics An idiopathic and sporadic condition characterized by extremely short stature and body and facial asymmetry, excessive sweating, a small [medical-dictionary.thefreedictionary.com]

Renpenning Syndrome

From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes [wikidata.org]

[…] head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. [malacards.org]

[…] testes, eye and heart, and related phenotypes are malar flattening and intellectual disability Disease Ontology : 12 An intellectual disability that is characterized by small [malacards.org]

Progeria

The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and [ncbi.nlm.nih.gov]

While possessing normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and [genome.gov]

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

face Short and narrow face Small facies [ more ] 0000274 Showing of 72 | Last updated: 2/1/2021 Cause Cause Spondylodysplastic Ehlers-Danlos syndrome (spEDS) can be caused [rarediseases.info.nih.gov]

[…] shoulders [ more ] 0000774 Pectus carinatum Pigeon chest 0000768 Short clavicles Short collarbone 0000894 Single transverse palmar crease 0000954 Slender toe Narrow toe 0011308 Small [rarediseases.info.nih.gov]

Bellini-Chiumello-Rinoldi Syndrome

[…] mesomelia mental retardation heart defects Brachydactyly nystagmus cerebellar ataxia Brachydactyly preaxial hallux varus Brachydactyly scoliosis carpal fusion Brachydactyly small [en.wikipedia.org]

[…] stature face anomalies Brachydactyly Smorgasbord type Brachydactyly t Brachydactyly tibial hypoplasia Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A3 Brachydactyly [en.wikipedia.org]

Progeroid Syndrome Type Petty

face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. [orpha.net]

* Small face * Underdeveloped end bones of fingers * Thick eyebrows * Umbilical hernia * Shagreen patch * Reduced fat under skin Causes - Progeroid syndrome Petty type * [checkorphan.org]

[…] congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small [orpha.net]

Pontocerebellar Hypoplasia Type 2A

Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protruding maxilla [en.wikipedia.org]

Pontocerebellar Hypoplasia Type 2D

Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protruding maxilla [en.wikipedia.org]

Retinal Vasculopathy with Cerebral Leukodystrophy

[…] with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, syndrome de cardiopathie congénitale-face ronde-petite [wordscope.com]

F22.0 WORLD HEALTH ORGANIZATION ICD-10: F22.0 A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face [wordscope.com]

3M Syndrome Type 1

face with sloping forehead, broad nasal bridge, shallow supraorbital ridge, broad nasal tip, short palpebral fissures, telecanthus, ptosis and dysplastic ears), microcephaly [ncbi.nlm.nih.gov]

Mulibrey nanism : includes prenatal and postnatal growth deficiency with relatively large hands, triangular faces with frontal bossing and depressed nasal bridge, small tongue [doi.org]

[…] report demonstrated that children thought to have autosomal recessive RSS did in fact have 3-M syndrome. 5 Dubowitz syndrome: includes characteristic facial appearance (small [ncbi.nlm.nih.gov]

Brachydactyly Type A7

Brachydactyly preaxial hallux varus, genetic damage of Brachydactyly scoliosis carpal fusion, genetic damage of Brachydactyly small stature face anomalies, genetic damage [educalingo.com]

Malouf Syndrome

Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes [linkedlifedata.com]

small chin, large testes, and hypotonia). [findzebra.com]

small chin, large testes, and hypotonia).[2] This disease is named after J. [en.wikipedia.org]

Sheldon-Hall Syndrome

However, congenital contractures of the distal joints, a small mouth, prominent nasolabial folds and a triangular face are consistent findings. [ojrd.biomedcentral.com]

[…] jaw Small lower jaw [ more ] 0000347 Narrow face Decreased breadth of face Decreased width of face [ more ] 0000275 Overlapping fingers 0010557 Protruding ear Prominent ear [rarediseases.info.nih.gov]

The most common clinical features of SHS include a triangular face, downslanting palpebral fissures, prominent nasolabial folds, small mouth, high arched palate, attached [ojrd.biomedcentral.com]

Proximal Trisomy 14q

She had a round face, asymmetric eyes (smaller left eye), small ears, and a short neck. [ncbi.nlm.nih.gov]

A few minor phenotypic abnormalities, including short palpebral fissure, low-set ears, a round face, asymmetric eyes, small ears, a short neck, and finger/toe abnormalities [ncbi.nlm.nih.gov]

[…] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems. [ncbi.nlm.nih.gov]

Chromophobe Renal Cell Carcinoma Classic Variant

[…] dome shaped papular fibrofolliculomas of face, neck and upper trunk, renal tumors, lung cysts and spontaneous pneumothorax Mutations in the folliculin gene (FLCN) at 17p11.2 [pathologyoutlines.com]

Bilateral multifocal ChRCC, oncocytomas or hybrid oncocytic chromophobe tumor (HOCT), also may have oncocytosis (Am J Surg Pathol 2002;26:1542) Autosomal dominant syndrome: small [pathologyoutlines.com]

Perisylvian Polymicrogyria with Cerebellar Hypoplasia and Arthrogryposis

[1] Signs and symptoms typically become apparent at birth, infancy, or later during childhood, and may include partial paralysis of the face, tongue, jaw, and throat; problems [rarediseases.info.nih.gov]

[…] grooves that develop during embryonic growth form improperly on both sides of the brain near the Sylvian fissure, resulting in an increased number of folds that are unusually small [rarediseases.info.nih.gov]

Pontocerebellar Hypoplasia Type 10

Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protruding maxilla [en.wikipedia.org]

Lujan-Fryns Syndrome

small chin, molar hypoplasia, high and narrow palate, hypernasal speech, pectus carinatum, pes planus and long extremities and fingers. [go.gale.com]

One presented with mild mental retardation and both patient had Marfanoid habitus and similar craniofacial anomalies (they had a long and narrow face, small mandible, high‐arched [onlinelibrary.wiley.com]

small chin, large testes, and hypotonia) associated with mental retardation. [whonamedit.com]

Trisomy 9

The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short [ncbi.nlm.nih.gov]

An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, wide fontanelle, prominent occiput, micrognathia, low set [en.wikipedia.org]

3M Syndrome Type 3

Mulibrey nanism: includes prenatal and postnatal growth deficiency with relatively large hands, triangular faces with frontal bossing and depressed nasal bridge, small tongue [nature.com]

Dubowitz syndrome (OMIM 223370) Unknown AR IUGR Microcephaly Eczema Characteristic facial features (small face w/sloping forehead, broad nasal bridge, shallow supraorbital [ncbi.nlm.nih.gov]

Long bones slender Thin long bones [ more ] 0003100 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Triangular face [rarediseases.info.nih.gov]

Freeman-Sheldon Syndrome

In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small mouth, mask-like face, high-arched palate, nasal speech, [ncbi.nlm.nih.gov]

Freeman Sheldon Syndrome, or Whistling Face Syndrome is a rare genetic disorder resulting in a small “whistling” mouth, a flat mask-like face, clubfeet, joint contractures [paleyinstitute.org]

The appearance of the face is the most striking feature, the small dimension of the oral fissure giving rise to the term "whistling face" proposed by Burian (1963). [ncbi.nlm.nih.gov]

Autosomal Recessive Cutis Laxa Type 1C

[…] forehead, triangular-shaped face, and large ears. [cutislaxa.org]

[…] and head (small chin, high-arched palate, and widely spaced eyes). [cutislaxa.org]

These children have loose skin, mostly on the hands, feet, and stomach, as well as their face. [cutislaxa.org]