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279 Possible Causes for Flat Facies

  • Partial Trisomy 21

    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]

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

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    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 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]

  • Larsen's Syndrome

    All of them had both the clinical and radiographic signs characteristic for the syndrome, namely flat, hyperteloric facies, multiple dislocations of the joints, club foot[ncbi.nlm.nih.gov] 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]

  • Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

    facies Hand foot uterus syndrome Hand wringing Rett syndrome Hand-foot-mouth disease Hand-Schuller-Christian disease Hanhart syndrome Hantavirosis Hantavirus pulmonary syndrome[academickids.com] […] syndrome Hallervorden-Spatz disease Hallux valgus Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot deformity flat[ssf.f15ijp.com] Hallermann Streiff syndrome Hallervorden-Spatz disease Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot deformity flat[academickids.com]

  • X-Linked Mandibulofacial Dysostosis

    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]

  • 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]

  • Dyssegmental Dysplasia Type Silverman-Handmaker

    facies micrognathia, cleft palate, reduced joint mobility, and encephalocoele .[newmedicalterms.com] (b) Sagittal view of the profile demonstrates flat facies with micrognathia.[docslide.com.br] […] dysplasia—Silverman-Handmaker type Joe Segen 2016-11-25T19:03:43 00:00 GENETICS Definition A severe lethal form (OMIM:224410) of dyssegmental dysplasia* characterised by flat[newmedicalterms.com]

  • Robinow-Sorauf Syndrome

    Autosomal dominant disease Synopsis flat facies thin, long, pointed nose shallow orbits hypertelorism plagiocephaly (asymmetry of orbits) strabismus broad great toes duplicated[humpath.com] Symptoms Facies: Flat facies; Thin, long, pointed nose Eyes: Shallow orbits; Hypertelorism; Plagiocephaly (asymmetry of orbits); Strabismus Limbs: Broad great toes; Duplicated[findzebra.com]

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