Flat Face: Causes & Reasons

Warning: Do not use in emergencies, if pregnant, if under 18, or as a substitute for a doctor’s advice or diagnosis. Learn more

Possible Causes for Flat Face

Kniest Dysplasia

The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease [zfin.org]

The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( Human Disease Ontology, DOID_0080045 ) Similar Terms Downloads & Tools Genes [amp.pharm.mssm.edu]

INHERITANCE: AD FREQUENCY: rare CLINICAL: round flat face, depressed nasal bridge, prominant eyes, cleft palate, clubfoot,inguinal herniae, myopia and hearing loss, retinal [orthopaedicsone.com]

Autosomal Dominant Larsen Syndrome

Features in this syndrome include a specific flat face with widely spaced Fig. 8.9. Larsen syndrome in a 3-month-old girl. [rrnursingschool.biz]

Genetic Disorders, Skeletal Dysplasias & Malformations Multiple congenital dislocations of large joints Characteristic flat face Ligamentous laxity Both autosomal dominant [orthofracs.com]

The typical features include anomalies of the face (flat-profiled face with frontal bossing and depressed nasal bridge, hypertelorism, cleft palate), the spine (abnormal segmentation [accessanesthesiology.mhmedical.com]

Thoracomelic Dysplasia

face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368 18 abnormality of the fibula 59 Very frequent (99-80%) 19 abnormality of fibula morphology 32 hallmark (90%) HP [malacards.org]

face Flat facial shape 0012368 Genu valgum Knock knees 0002857 Hyperlordosis Prominent swayback 0003307 Joint hyperflexibility Joints move beyond expected range of motion [rarediseases.info.nih.gov]

Stickler Syndrome Type 5

eye, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial Phenotypes Amblyopia ; Astigmatism ; Cataract ; Cleft palate ; Epiphyseal dysplasia ; Flat [beta.mousephenotype.org]

When she was first examined at the age of 9 months, she had a very flat face with frontal bossing, buphthalmic eyes, midfacial hypoplasia, flat nasal bridge, hypoplastic depressed [nature.com]

Symptoms - Stickler syndrome- type 3 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face [checkorphan.org]

Cerebro-Facio-Thoracic Dysplasia

face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. [unboundmedicine.com]

face Flat facial shape 0012368 Gingival overgrowth Gum enlargement 0000212 Hemivertebrae Missing part of vertebrae 0002937 High palate Elevated palate Increased palatal height [rarediseases.info.nih.gov]

face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck,... more Whole-exome sequencing (WES) is a type of disruptive technology that [scinapse.io]

Hypochondrogenesis

Affected fetuses and infants have a large head, soft cranium, flat face, barrel shaped trunk, and short long bones. [ctgt.net]

Spondyloepiphyseal dysplasia is an autosomal dominant dwarfism characterized by spine greater than extremities shortening, barrel chest with pectus carinatum, flat face with [advancedradteaching.com]

Additional sonographic findings include: micrognathia macrocephaly frontal bossing flat face anteverted nares long philtrum narrow fetal thorax lung aplasia / hypoplasia rib [radiopaedia.org]

High Myopia-Sensorineural Deafness Syndrome

Large base nose and flat face, typical of Stickler's syndrome (CASE 2). [oldfiles.bjorl.org]

face (flat cheek bones) with a small nose, and Little or no nasal bridge Small upper jaw Small lower jaw Mouth: Cleft palate (an opening in the roof of the mouth). [hypermobility.org]

The facial features of Stickler syndrome are less prominent but include a rather long flat face, and depressed nasal bridge. [wikidoc.org]

Freeman-Sheldon Syndrome

Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, [ncbi.nlm.nih.gov]

[…] whistling-face syndrome, is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face [quintessence-publishing.com]

(Figure) Freeman-Sheldon Syndrome Infant with Freeman-Sheldon syndrome showing the typical whistling face, long philtrum, and flat face. [accessanesthesiology.mhmedical.com]

Stickler Syndrome Type 2

Symptoms - Stickler syndrome- type 2 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face [checkorphan.org]

face, small nose, little or no nasal bridge mitral valve prolapse Causes The cause of Stickler syndrome is mutation of some of the collagen genes, inherited by the affected [humanitas.net]

Other facial characteristics include a flat face with a small nose and little or no nasal bridge. [stickler.org.uk]

Stickler Syndrome

face, small mandible, or cleft palate; 70%, hearing loss; and 90%, joint problems, primarily early joint pain from degenerative joint disease. [ncbi.nlm.nih.gov]

Affiliated tissues include bone, tongue and eye, and related phenotypes are genu valgum and flat face [malacards.org]

People with Stickler syndrome also may have a flat face with completely flat cheekbones, extreme nearsightedness (myopia), cataracts and problems with the lining on the eye [thinkgenetic.com]

Trisomy 12p

face Flat facial shape 0012368 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Global developmental delay 0001263 Hypertelorism [rarediseases.info.nih.gov]

[…] and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or [onlinelibrary.wiley.com]

face small teeth relatively short arms and legs. [betterhealth.vic.gov.au]

Mucopolysaccharidosis Type 1 H

Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. [day2dayparenting.com]

The facial features undergo a marked deterioration, which mainly include a low nasal bridge, flat face, and protruding forehead. [patienthelp.org]

Ring Chromosome 7

Face similar to that of his sister: short forehead, flat face, downward slant of the palpebral fissures, high and broad nasal bridge, short nose, short philtrum, small mouth [ssmc-tl.com]

face Flat facial shape 0012368 Flat forehead Flattened forehead 0004425 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows [rarediseases.info.nih.gov]

Flat face, high and prominent forehead, deep-set eyes, short nose, prominent nasal root close to frontal bone, short philtrum, thick columella, thin lips, relative microstomia [ssmc-tl.com]

Wiedemann-Steiner Syndrome

face Flat facial shape 0012368 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertelorism Wide-set eyes Widely [rarediseases.info.nih.gov]

[…] of the opening between the eyelids 0000494 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Flat [rarediseases.info.nih.gov]

Autosomal-Recessive Robinow Syndrome

Overview A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia. [checkorphan.org]

face ; Frontal bossing ; Gingival overgrowth ; Global developmental delay ; Hydronephrosis ; Hypertelorism ; Hypoplastic labia majora ; Hypoplastic sacrum ; Inguinal hernia [mousephenotype.org]

face Flat facial shape 0012368 Frontal bossing 0002007 Gingival overgrowth Gum enlargement 0000212 Global developmental delay 0001263 Hydronephrosis 0000126 Hypertelorism [rarediseases.info.nih.gov]

Spondyloepiphyseal Dysplasia Congenita

Children with the disorder may also have craniofacial deformities including a cleft palate, a flat face and hypertelorism (wide-set eyes). [chop.edu]

Radiographic findings include: 1) retarded spinal ossification in infancy, notably the cervical and sacral spine, 2) flat and/or dorsally wedged vertebral bodies often with [advancedradteaching.com]

Achondrogenesis Type 2

Additional sonographic findings include: micrognathia macrocephaly frontal bossing flat face anteverted nares long philtrum narrow fetal thorax lung aplasia / hypoplasia rib [radiopaedia.org]

face Flat facial shape 0012368 Frontal bossing 0002007 Long philtrum 0000343 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Micrognathia [rarediseases.info.nih.gov]

face Flat facial shape 0012368 Frontal bossing 0002007 Hydrops fetalis 0001789 Long philtrum 0000343 Macrocephaly Increased size of skull Large head Large head circumference [rarediseases.info.nih.gov]

Partial Monosomy 18q

face Prominent upper jaw with small lower jaw Round low-set ears with deformities Thumb anomalies Severe mental impairment. 16 Q Minus (16q-) In this disorder, part of the [verywell.com]

They have short body, flat faces, epicanthic folds (part of skin over the inner corner of the eye – the reason why they are sometimes called “Mongoloid”), small low-set ears [wikilectures.eu]

face, hypertelorism, renal hypoplasia, cardiopathy, cebocephaly, dystonia can be observed. [1], [2] Nearly 85% of the cases have originated from a de novo deletion and less [jisppd.com]

Achondrogenesis Type 1B

face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features [monarchinitiative.org]

Additional sonographic findings include: micrognathia macrocephaly frontal bossing flat face anteverted nares long philtrum narrow fetal thorax lung aplasia / hypoplasia rib [radiopaedia.org]

The physical appearance is strikingly abnormal and characteristics include flat face, narrow thorax with protuberant abdomen, and particularly the severe micromelia with short [radiopaedia.org]

X-Linked Mandibulofacial Dysostosis

AR hypertrophic auricular cartilage, cleft palate, micrognathia Neonatal osseous dysplasia I 256050 AR micrognathia, cleft palate, flat nasal bridge, mid-face hypoplasia, [widesmiles2.org]

Physical examination of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Clefts in the face Small jaw Low-set ears Abnormally formed [texaschildrens.org]

face, round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 [widesmiles2.org]

Axenfeld-Rieger Syndrome Type 3

In addition, the proband presented with a flat face, a flat nasal bridge, hypertelorism and telecanthus. The proband was diagnosed with ARS due to genetic defect. [spandidos-publications.com]

Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent [encyclopedia.pub]

Mid-face abnormalities include hypertelorism, telecanthus, maxillary hypoplasia with flattening of the mid-face, prominent forehead, and broad, flat nasal bridge. [orpha.net]

Schwartz-Jampel Syndrome

face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched voice ; Hip contracture ; Hyporeflexia ; Inguinal hernia ; Intellectual disability [mousephenotype.org]

face Flat facial shape 0012368 Flexion contracture of toe 0005830 High palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Hip contracture [rarediseases.info.nih.gov]

Blepharophimosis ; Cataract ; Congenital hip dislocation ; Coronal cleft vertebrae ; Coxa valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat [mousephenotype.org]

Apert Syndrome

The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral [ncbi.nlm.nih.gov]

[…] bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Finger syndactyly 0006101 Flat face Flat facial [rarediseases.info.nih.gov]

Wide forehead [ more ] 0000337 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Depressed nasal bridge Depressed bridge of nose Flat [rarediseases.info.nih.gov]

Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia

Symptoms - Stickler syndrome- type 3 * Flat face * Depressed nasal bridge * Prominent eyes * Epicanthal folds * Short nose * Anteverted nostrils * Underdeveloped mid face [checkorphan.org]

Other facial characteristics include a flat face with a small nose and little or no nasal bridge. [stickler.org.uk]

The characteristic systemic abnormalities of SS include sensorineural hearing loss, Pierre-Robin sequence, joint hypermobility, premature arthritis, flat mid face, depressed [omicsonline.org]

Acrodysostosis

In addition to that, vertebral abnormalities, flat face due to severe nasal hypoplasia, abnormally large mandible and dental malocclusion, pigmented skin, menstrual irregularities [radiopaedia.org]

Note the minor facial anomalies (a-b), including flat face, depressed nasal bridge, short nose, and long philtrum Full size image Fig. 2 The photographs and X-ray pictures [bmcendocrdisord.biomedcentral.com]

[…] with the skin, genitals, teeth, and skeleton Short arms and legs with small hands and feet Short head, measured front to back Short height Small, upturned broad nose with flat [nlm.nih.gov]

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

wide-spaced eyes, proptosis ("bulging" eyes), narrow mouth, low-set ears, sparse scalp hair, flat face, wide forehead, blue sclerae, abnormal teeth, and cleft palate/bifid [rarediseases.info.nih.gov]

face Flat facial shape 0012368 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 [rarediseases.info.nih.gov]

Fragile bones from low bone mineral density (osteopenia) Mild intellectual disabilities or learning disabilities Eye problems Characteristic facial features (triangular face [rarediseases.info.nih.gov]

Microdontia - Hypodontia - Short Stature

face (50.9%) (Kava et al., 2004). [fdna.health]

At five years of age, some facial features were compatible to features typical to Down syndrome, including a round, flat face with upslanting palpebral fissures, prominent [fdna.health]

[…] epicanthal folds, flat nasal bridge, and mild macroglossia. [fdna.health]

Robinow-Sorauf Syndrome

Definition An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, [uniprot.org]

UniProtKB/Swiss-Prot : 72 Robinow-Sorauf syndrome: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, [malacards.org]

Multiple Joint Dislocations - Short Stature - Craniofacial Dysmorphism

Tetrasomy

Since the first report by Pallister, over 30 cases have been described and the characteristic phenotype defined of a coarse face, flat, broad nasal bridge, hypertelorism, [latunisiemedicale.com]

The major features of Fryns syndrome are diaphragmatic hernia, coarse face with a broad, flat nasal bridge, cleft lip/palate, hirsutism, and distal limb abnormalities. [latunisiemedicale.com]

Physical examination showed facial dysmorphim: “coarse” face with flat profile and high forehead, hypertelorism, upslanting palpebral fissures, and a broad, flat nasal bridge [latunisiemedicale.com]