Flat Facies: Causes & Reasons

Possible Causes for Flat Facies

facies, high narrow palate Pfeiffer syndrome 101600 AD mild craniosynostosis, flat facies, acrocephaly Beare-Stevenson cutis gyrata syndrome 123790 AD craniosynostosis, cloverleaf [widesmiles2.org]

[…] nasal bridge, malformed ears TF Twist TWIST 7p21 601622 Saethre-Chotzen syndrome 101400 AD craniosynostosis, acrocephaly, brachycephaly, flat facies, thin long pointed nose [widesmiles2.org]

facies, dental anomalies, deafness Osmed syndrome 215150 AR saddle nose, cleft palate, progressive deafness Shprintzen-Goldberg syndrome 182212 AD craniosynostosis, microcephaly [widesmiles2.org]

Chondrodysplasia Punctata

Fetus 2: Prenatal findings included premature epiphyseal stippling, paravertebral cartilaginous calcific foci, mild shortening of the long bones and flat facies. [ncbi.nlm.nih.gov]

All patients had flat facies, a depressed nasal bridge, a hypoplastic nose, a short philtrum, notched alae nasi, brachydactyly, and hypoplastic terminal phalanges. [journals.lww.com]

facies with nasal hypoplasia. [eurorad.org]

Hypomandibular Faciocranial Dysostosis

facies Hand foot uterus syndrome Hand wringing Rett syndrome Hand-foot-mouth disease Hand-Schuller-Christian disease Hanhart syndrome Hantavirosis Hantavirus pulmonary syndrome [starrepublic.org]

[…] syndrome Hallervorden-Spatz disease Hallux valgus Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot deformity flat [wikidoc.org]

Hand and foot deformity flat facies[?] Hand foot uterus syndrome[?] Hand wringing Rett syndrome[?] Hand-foot-mouth disease[?] Hand-Schuller-Christian disease[?] [encyclopedia.kids.net.au]

Trisomy 12p

facies with prominent checks, epicanthic folds, broad and irregular implantation of the eyebrows, broad and flat nasal bridge with short and narrow nose, anteverted nostrils [pubmed.ncbi.nlm.nih.gov]

PALLISTER KILLIAN SYNDROME (TETRASOMY 12p) This chromosomal abnormality results in dysmorphic features that include a coarsened flat facies, high forehead, reduced scalp hair [epilepsydiagnosis.org]

[…] affected cases were compared with a previous one and the concordant characteristics allowed the individualization of the following syndrome: severe mental retardation, peculiar flat [pubmed.ncbi.nlm.nih.gov]

Postaxial Oligodactyly, Tetramelic

Akinesia Syndrome, X-Linked Freire-Maia Odontotrichomelic Syndrome Fryns Syndrome Genee-Wiedemann Syndrome Grubben de Cock Borghgraef Syndrome Hand and Foot Deformity with Flat [crrd.mcw.edu]

facies Hand–foot–uterus syndrome Hand wringing Rett syndrome Hand, foot and mouth disease Hand–Schüller–Christian disease Hanhart syndrome Harding ataxia Harlequin type ichthyosis [sosu.us]

Facies Hanhart Syndrome Heart Defects Limb Shortening hypochondroplasia Hypoglossia-Hypodactylia Ichthyosis Tapered Fingers Midline Groove Up INTELLECTUAL DEVELOPMENTAL DISORDER [crrd.mcw.edu]

Rudd-Klimek Syndrome

Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies [orpha.net]

Hornova-Dlurosova Syndrome

facies Hard skin syndrome Parana type Harrod Doman Keele syndrome Hartsfield Bixler Demyer syndrome Haspeslagh Fryns Muelenaere syndrome Hay Wells syndrome recessive type [en.wikipedia.org]

facies Hand foot uterus syndrome Hand-Schuller-Christian disease Hanhart syndrome Hansen's disease Hantavirosis Hantavirus pulmonary syndrome Hard skin syndrome Parana type [personalizedcause.com]

[…] ears, y-linked Hairy ears Hairy nose tip Halal Setton Wang syndrome Hall Riggs mental retardation syndrome Hamano Tsukamoto syndrome Hamartoblastoma Hand and foot deformity flat [en.wikipedia.org]

Toluene Embryopathy

facies Hard skin syndrome Parana type Harrod Doman Keele syndrome Hartsfield Bixler Demyer syndrome Haspeslagh Fryns Muelenaere syndrome Hay Wells syndrome recessive type [en.wikipedia.org]

[…] nose tip Halal Setton Wang syndrome Hall Riggs mental retardation syndrome Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoblastoma Hand and foot deformity flat [en.wikipedia.org]

Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

[…] syndrome Hallervorden-Spatz disease Hallux valgus Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot deformity flat [wikidoc.org]

facies * Hand foot uterus syndrome * Hand wringing Rett syndrome * Hand-foot-mouth disease * Hand-Schuller-Christian disease * Hanhart syndrome * Hantavirosis * Hantavirus [en.academic.ru]

facies Hand foot uterus syndrome Hand wringing Rett syndrome Hand-foot-mouth disease Hand-Schuller-Christian disease Hanhart syndrome Harding ataxia Harlequin type ichthyosis [thefullwiki.org]

Hamanishi Ueba Tsuji Syndrome

facies Hard skin syndrome Parana type Harrod Doman Keele syndrome Hartsfield Bixler Demyer syndrome Haspeslagh Fryns Muelenaere syndrome Hay Wells syndrome recessive type [en.wikipedia.org]

facies Hand foot uterus syndrome Hand-Schuller-Christian disease Hanhart syndrome Hansen's disease Hantavirosis Hantavirus pulmonary syndrome Hard skin syndrome Parana type [personalizedcause.com]

Fine-Lubinsky Syndrome

Flat face Flat facies, Flat facial profile, Flat facial shape [more] Absence of concavity or convexity of the face when viewed in profile. [rarediseases.oscar.ncsu.edu]

Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

facies, dental anomalies, deafness Osmed syndrome 215150 AR saddle nose, cleft palate, progressive deafness Shprintzen-Goldberg syndrome 182212 AD craniosynostosis, microcephaly [widesmiles2.org]

Camptodactyly Syndrome Type Guadalajara 2

Guadalajara Type I: In addition to the aforementioned signs, these patients may have seizures, micro- and brachycephaly, flat facies, small ears with attached lobule, blepharophimosis [accessanesthesiology.mhmedical.com]

Guadalajara type I: In addition to the aforementioned signs, these patients have seizures, microcephaly and brachycephaly, flat facies, microcornea, telecanthus, epicanthic [mhmedical.com]

(epicanthus, broad nasal bridge, flat face with malar hypoplasia), and skeletal anomalies (brachycephaly, microcephaly, pectus ex-cavatum, fibular hypoplasia, hallux valgus [rrnursingschool.biz]

Larsen's Syndrome

In Larsen's syndrome there is a flat facies associated with a prominent forehead, a flat and depressed nasal bridge, and the eyes are wide set. Figure 3.80. [rrnursingschool.biz]

Larsen Syndrom Facies Figure 3.79. [myfertilityguide.biz]

Larsen Syndrome, Autosomal Dominant: Characterized by short stature, flat facies, prominent forehead, hypertelorism, cataracts, cleft lip/palate, congenital heart defects [accessanesthesiology.mhmedical.com]

Cartwright-Nelson-Fryns Syndrome

[…] sequence syndrome X-linked fetal encasement syndrome Freire-Maia Odontotrichomelic Syndrome Fryns Syndrome Grubben de Cock Borghgraef Syndrome Hand and Foot Deformity with Flat [rgd.mcw.edu]

Facies Hanhart Syndrome Heart Defects Limb Shortening hypochondroplasia Hypoglossia-Hypodactylia Ichthyosis Tapered Fingers Midline Groove Up Intellectual Developmental Disorder [rgd.mcw.edu]

Camptodactyly Syndrome Type Guadalajara III

facies and digital contractures (Emery 8. [vdocuments.site]

(epicanthus, broad nasal bridge, flat face with malar hypoplasia), and skeletal anomalies (brachycephaly, microcephaly, pectus ex-cavatum, fibular hypoplasia, hallux valgus [rrnursingschool.biz]

Jaffer-Beighton Syndrome

Akinesia Syndrome, X-Linked fetal encasement syndrome Freire-Maia Odontotrichomelic Syndrome Fryns Syndrome Grubben de Cock Borghgraef Syndrome Hand and Foot Deformity with Flat [rgd.mcw.edu]

facies Hard skin syndrome Parana type Harrod Doman Keele syndrome Hartsfield Bixler Demyer syndrome Haspeslagh Fryns Muelenaere syndrome Hay Wells syndrome recessive type [en.wikipedia.org]

Facies Hanhart Syndrome Heart Defects Limb Shortening hypochondroplasia Hypoglossia-Hypodactylia Ichthyosis Tapered Fingers Midline Groove Up Intellectual Developmental Disorder [rgd.mcw.edu]

Irons-Bhan Syndrome

facies Hard skin syndrome Parana type Harrod Doman Keele syndrome Hartsfield Bixler Demyer syndrome Haspeslagh Fryns Muelenaere syndrome Hay Wells syndrome recessive type [en.wikipedia.org]

(a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). [malacards.org]

Summary Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies [rarediseases.info.nih.gov]

Trisomy 3pter

facie, hypertelorism, antimongoloid palpebral cleft, flat nasal bridge, symmetrical neck, symmetrical thorax, soft abdomen without lumps, micro-penis, testicle in scrotum [ommegaonline.org]

frontal bossing, down slanting palpebral fissures, hypertelorism, flat nasal bridge, hypoplasic nostrils, long filtrum, high palate, microretrognathia and mental retardation [semanticscholar.org]

frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum [orpha.net]

Hypergonadotropic Hypogonadism-Cataract Syndrome

Flat face Flat facies, Flat facial profile, Flat facial shape [more] Absence of concavity or convexity of the face when viewed in profile. [rarediseases.oscar.ncsu.edu]

OMIM:234350 Halothane Hepatitis OMIM:611174 Hamamy Syndrome; HMMS OMIM:609808 Hamartoma, Precalcaneal Congenital Fibrolipomatous OMIM:139750 Hand and Foot Deformity with Flat [informatics.jax.org]

facies Pheochromocytoma Bronchogenic cyst Bazex-Dupre-Christol syndrome XFE progeroid syndrome Fibrodysplasia ossificans progressiva Chitayat Meunier Hodgkinson syndrome [checkrare.com]

Chondrodysplasia punctata Type Toriello

Flat face Flat facies, Flat facial profile, Flat facial shape [more] Absence of concavity or convexity of the face when viewed in profile. [rarediseases.oscar.ncsu.edu]

Flat facies with nasal hypoplasia. Sacral ossification (sacral ossification usually begins after birth but may occasionally be seen in the third trimester). [fetalultrasound.com]

[…] or Syndrome Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia or agenesis); characteristic facial appearance (coarse facies [ncbi.nlm.nih.gov]

Camptodactyly Syndrome Guadalajara Type 1

(epicanthus, broad nasal bridge, flat face with malar hypoplasia), and skeletal anomalies (brachycephaly, microcephaly, pectus ex-cavatum, fibular hypoplasia, hallux valgus [rrnursingschool.biz]

Camptodactyly syndrome, Guadalajara type I (faciothora-coskeletal syndrome, OMIM 211910) is an association of intrauterine growth retardation, campto-dactyly, peculiar facies [rrnursingschool.biz]

Jones-Hersh-Yusk Syndrome

facies Hard skin syndrome Parana type Harrod Doman Keele syndrome Hartsfield Bixler Demyer syndrome Haspeslagh Fryns Muelenaere syndrome Hay Wells syndrome recessive type [en.wikipedia.org]

Familial Median Cleft of the Upper and Lower Lips

facies, dental anomalies, deafness Osmed syndrome 215150 AR saddle nose, cleft palate, progressive deafness Shprintzen-Goldberg syndrome 182212 AD craniosynostosis, microcephaly [en.wikibooks.org]

Partial Trisomy 21 in Down Syndrome

Many phenotypic features of DS were present including hypotonia, flat occiput, flat facies, up-slanted palpebral fissures, epicanthic folds, flat nasal bridge, macroglossia [ncbi.nlm.nih.gov]

Notable features include upslanting palpebral fissures, flat facies, prominent epicanthal folds and a flat nasal bridge. [nature.com]

Autosomal Recessive Spastic Paraplegia Type 64

Facies Hydrocephalus With Associated Malformations Hypophosphatasia, Adult Infantile Sialic Acid Storage Disorder Joubert Syndrome 1 Joubert Syndrome 2 Mental Retardation [familydiagnosis.com]

Porphyria Dermochondrocorneal Dystrophy Exostoses, Multiple, Type I Fountain Syndrome Free Sialic Acid Storage Disease Gorlin-Chaudhry-Moss Syndrome Hand And Foot Deformity With Flat [familydiagnosis.com]

Acromesomelic Chondrodysplasia with Genital Anomalies

Flat facies with nasal hypoplasia. Sacral ossification (sacral ossification usually begins after birth but may occasionally be seen in the third trimester). [fetalultrasound.com]

Hand and foot deformity with flat facies 0 *Limb Deformities, Congenital Face/abnormalities. [reference.md]

[1] Clinical features also may include a short, upturned nose, a prominent forehead, and a flat nasal bridge. [en.wikipedia.org]

Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

Stickler syndrome : This AD disorder is characterized by Robin sequence, flat facies, myopia, retinal detachment and cataracts, spondyloepiphyseal dysplasia and CP and/or [radiologykey.com]

Hirschsprung Disease Type D-Brachydactyly Syndrome

[…] syndrome Hallervorden-Spatz disease Hallux valgus Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot deformity flat [wikidoc.org]

facies Hand foot uterus syndrome Hand wringing Rett syndrome Hand-foot-mouth disease Hand-Schuller-Christian disease Hanhart syndrome Hantavirosis Hantavirus pulmonary syndrome [wikidoc.org]

Autosomal Dominant Chondrodysplasia Punctata

Synopsis stippled epiphyseal calcification (epiphyseal stippling) dwarfism flat facies depressed nasal bridge cataract short neck flexion contracture foot deformation ichtyosiform [humpath.com]

Flat facies with nasal hypoplasia. Sacral ossification (sacral ossification usually begins after birth but may occasionally be seen in the third trimester). [fetalultrasound.com]