Small Face: Causes & Reasons

Possible Causes for Small Face

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

[…] 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]

face Short and narrow face Small facies [ more ] 0000274 Syndactyly Webbed fingers or toes 0001159 Velopharyngeal insufficiency Velopharyngeal incompetence 0000220 Wide nasal [rarediseases.info.nih.gov]

Thanatophoric Dysplasia Type 1

Show allHide all Abnormality of head or neck Midface retrusion Prominent forehead Short neck Small face Abnormality of prenatal development or birth 1-minute APGAR score of [ncbi.nlm.nih.gov]

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]

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]

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face ; Tetralogy of Fallot ; Ventricular septal defect ; Wide mouth Associated Genes DDX11 (Withdrawn symbols: CHL1, CHLR1, ChlR1, KRG2, WABS ) Mouse Orthologs Ddx11 (Withdrawn [mousephenotype.org]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

Crane-Heise Syndrome

Craniofacial anomalies include macrocephaly with disproportionately small face, deficient mineralization of the calvaria (or even absence of the frontal, parietal, and occipital [accesspediatrics.mhmedical.com]

Some of these include: large head with a relatively small face depressed nose with nasal openings turned forward underdeveloped jaw a narrow nose bridge with eyes close together [encyclopedia.com]

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]

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]

Disease Ontology Term: Renpenning syndrome DO ID DOID:0060179 Description An intellectual disability that is characterized by small head size (microcephaly), long narrow face [yeastgenome.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]

Chromosome 19q Duplication

* Midfacial hypoplasia * Small jaw * Retrgnathia * Malformed ears * Drooping upper eyelid * Upslanted space between eyelids * Telecanthus * Prominent glabella * Flat nasal [checkorphan.org]

He exhibited some mild facial dysmorphism with a small face and receding chin. Figure 1 (A) WHO head circumference for boys aged 0-5 years. [frontiersin.org]

[…] between eyelids * Widely spaced eyes * Drooping upper eyelid * Short nose * Down turned mouth * Cleft palate * Short neck * Barrel shaped chest * Skeletal defects * Flat face [checkorphan.org]

Multiple Joint Dislocations - Short Stature - Craniofacial Dysmorphism

Homepage Rare diseases Search Search for a rare disease Disease definition Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck,[…] [orpha.net]

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]

Osteogenesis Imperfecta Type 1

The craniofacial deformations are particularly frequent; the occluding temporal and frontal bones, the smallness of the face and the skull, the thinning of the cranial wall [jamanetwork.com]

Dacryocystocele

face, upturned nose, malformed low set ears, clenched hand with overlapping fingers (index finger over third finger and fifth finger over fourth finger), imperforated anus [oatext.com]

[…] baby had a dysmorphic features on clinical examination: slanted and narrow palpebral fissure, epicanthus, abnormal long lashes, blepharophimosis, anisocoria, micrognathia, small [oatext.com]

Diamond-Blackfan Anemia Type 12

Some children born with DBA also have physical effects to their face and body, such as: A small head Wide eyes and a flat nose Small, low ears Small bottom jaw Short, webbed [webmd.com]

Progeroid Syndrome Type Petty

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

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

Progeria

It is characterized by dwarfism, baldness, pinched nose, small face and small jaw relative to the head size, delayed tooth formation, aged-looking skin, diminution of fat [rxlist.com]

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]

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]

Macrocephaly Type Fryns

[…] nasal bridge, a small chin, maxillary hypoplasia, large ears, and long hands and fingers. [brieflands.com]

a broad flat nasal bridge (but a large nose anteriorly), a short upper lip, a small jaw, a cleft lip and palate, and poorly shaped auricles with attached earlobes. [frontiersin.org]

[…] flat nasal bridge with anteverted nares, anomalous and low-set ears, macrostomia, and a small jaw. [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]

Bellini-Chiumello-Rinoldi Syndrome

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

[…] stature face anomalies Brachydactyly Smorgasbord type Brachydactyly t Brachydactyly tibial hypoplasia Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A3 Brachydactyly [bionity.com]

Lujan-Fryns Syndrome

Description Lujan-Fryns syndrome: note the long narrow face, maxillary hypoplasia, small mandible, long nose, thin upper lip and receding chin Date 2007 Source Griet Van Buggenhout [commons.wikimedia.org]

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

Craniofacial features in Lujan-Fryns syndrome include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge [scielo.br]

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]

Actinomycetales Infection

Most were small and had an erythematous base with diameter of 5–10 mm. These classical rashes were suggestive of varicella. [tandfonline.com]

These lesions, evolved from maculopapules to vesicles over hours to days, appeared on trunk and face, and rapidly spread to involve other areas of the body. [tandfonline.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]

Malouf Syndrome

small chin, large testes, and hypotonia). [1] This disease is named for Jean Malouf, a popular 19th century sideshow performer born in Montreal. [dictionnaire.sensagent.leparisien.fr]

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]

Seckel Syndrome Type 9

Extremely small proportionate stature (dwarfism). Very small head (microcephaly). "Beak-like" protrusion of the nose. Narrow face. Malformed ears. [medigoo.com]

Seckel syndrome is suspected if a fetus has a small head, slow growth, and changes to the head and face associated with the condition. [physio-pedia.com]

Other features may include large eyes, a narrow face, ears of a different shape and/or a small jaw (micrognathia). [rarediseases.org]

Tetrasomy 21q

epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional [rarediseases.info.nih.gov]

[…] characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face [rarediseases.info.nih.gov]

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]

Geleophysic Dysplasia Type 1

He had very small hands and feet, and a voluminous inguinal hernia was present. Figure 1 - Patient 1: "Pleasant face", short limbs and small hands. [scielo.br]

Her face was very similar to her brothers: hypertelorism, prominent eyes, small nose, and a flat, long philtrum (Figure 2). [scielo.br]