Dysmorphic Facies: Causes & Reasons

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Possible Causes for Dysmorphic Facies

Mucolipidosis

[…] features such as puffy eyelids and coarse facies were absent in our patient. [neurologyindia.com]

Dysmorphic features included flat and coarse facies, ridged palate, thickened gums, broad and short hands held in ulnar deviation, broad and camptomelic fingers. [nature.com]

The characteristic phenotype of children with ML-IV is marked by psychomotor delay, corneal clouding, optic atrophy, retinal dystrophy and squint. [1],[2] Described dysmorphic [neurologyindia.com]

Alacrima - Achalasia - Mental Retardation

Facies INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS Intellectual [rgd.mcw.edu]

faces, intellectual disability, and a bone dysplasia of unknown etiology. 61 Stinson JL...Weaver DD 32426895 2020 25 De novo mutations of TUBB2A cause infantile-onset epilepsy [malacards.org]

Facies INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis [rgd.mcw.edu]

Holoprosencephaly - Recurrent Infections - Monocytosis

facies Skin Nails Hair Skin: recurrent skin infections Head And Neck Ears: abnormal pinnae narrow ear lobes Head And Neck Head: microcephaly brachycephaly Chest Breasts: [malacards.org]

Onychodysplasia of the index fingers dysmorphism Sezary syndrome Renal adenocarcinoma mental retardation Colangite esclerosante SEMD X-linked with mental porracoccidiodomicose [yumpu.com]

Hypotonia, and Mental Retardation OMIM:236750 Hydrops Fetalis, Nonimmune; NIHF OMIM:613124 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features OMIM:617021 [informatics.jax.org]

Lethal Multiple Pterygium Syndrome

facies (eg, hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, low-set ears), marked webbing and flexion contractures [emedicine.medscape.com]

- Adducted thumbs, ulnar deviation of metacarpophalangeal (MP) joints, normal facies Type IIA (Freeman-Sheldon syndrome, whistling face syndrome, craniocarpal tarsal dystrophy [emedicine.medscape.com]

facies (flat, sad, motionless facial appearance), and cervical vertebral anomalies The autosomal dominant type is characterized by multiple pterygia with or without MR Multiple [emedicine.medscape.com]

Congenital Disorder of Glycosylation Type 2J

Help Watch the 'search for a disease' video tutorial Procedures: Orphanet inventory of rare diseases Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems: each disease in Orphanet is attributed a unique and[…] [orpha.net]

Ulnar Mammary Syndrome

We report on a girl presenting with an UMS like phenotype, a dysmorphic facies, and mental retardation. [ncbi.nlm.nih.gov]

facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. [genome.jp]

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28Mb deletion encompassing the TBX3 gene. [ncbi.nlm.nih.gov]

Blepharofacioskeletal Syndrome

[…] disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.EpidemiologySRS [malacards.org]

Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. [ncbi.nlm.nih.gov]

Orpha Number: 2353 Disease definition Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism [rarediseases.info.nih.gov]

Facioauriculoradial Dysplasia

[…] dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) Journal of Medical Genetics 1982; 19: 110-115. [jmg.bmj.com]

Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) A E Harding *, C M Hall †, M Baraitser † * [jmg.bmj.com]

Abstract A syndrome characterised by asymmetrical radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity is described in a mother and her daughter [ncbi.nlm.nih.gov]

Donohue Syndrome

Leprechaunism is clinically manifested by abnormal growth, dysmorphic facies along with abnormalities of the endocrine organs. [symptoma.com]

Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities [profiles.umassmed.edu]

Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive disorder characterized by extreme insulin resistance, growth delays and dysmorphic facies. [symptoma.com]

Postaxial Oligodactyly, Tetramelic

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

There is a known association with dysmorphic facies (small nose, micrognathia, and cleft palate) called the femoral hypoplasia-unusual facies syndrome (134780). [docksci.com]

Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism [sosu.us]

Absent Thumb - Short Stature - Immunodeficiency Syndrome

[…] retardation; distinct dysmorphic facies; aplastic pancytopenia; increased risk of AML and ALL AR Unknown 264, 265 Nijmegen breakage syndrome Microcephaly; dystrophic facies [patient-help.com]

facies- almond-shaped eyes, downturned mouth, narrow forehead Complicatons: slepe apnea, DM2, gastric rupture, choking Prader-Willi Syndrome 15q11-q13 deletion - paternal [quizlet.com]

facies, congenital hearing anomalies, short stature CBL : dysmorphic features, JXG, learning difficulties NF1 Brain tumor : ophthalmic assessments q 6-12 mo from birth to [hematology.org]

Kenny-Caffey Syndrome Type 1

facies, characteristic bone changes and mild mental retardation. [ncbi.nlm.nih.gov]

[…] characteristics in 1976;[4] Lee detailed the facial features in 1983.[5] We are presenting the case of 7-month-old girl with refractory failure to thrive hypoparathyrodism, dysmorphic [ncbi.nlm.nih.gov]

Craniorhiny

FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES Jequier Kozlowski skeletal dysplasia Jones Hersh Yusk syndrome [ctdbase.org]

FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES Isolated Thoracic Dysostosis Jequier Kozlowski Skeletal [rgd.mcw.edu]

FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES Jequier Kozlowski Skeletal Dysplasia Jones Hersh Yusk Syndrome [rgd.mcw.edu]

Renpenning Syndrome

Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration [malacards.org]

Pyknodysostosis

facies and failure to thrive for evaluation. [ncbi.nlm.nih.gov]

On general examination, the patient had short stature and dysmorphic facies with radiological signs of generalized osteosclerosis and narrow medullary canal. [jocr.co.in]

facies. 2 It is, however (as in our case), sometimes diagnosed late, as a result of inclination to fractures and infections resulting from increased bone density and impaired [sajr.org.za]

Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome

Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies [unboundmedicine.com]

Developmental retardation with unusual facies, arthritis,and hearing impairment. Dysmorph Clin Genet 4:103109.CoroneoMT, Chui JJY. 2013. [docslide.com.br]

Spondyloenchondrodysplasia

face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation [en.wikipedia.org]

Short stature Brussels type Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly Short stature deafness neutrophil dysfunction Short stature dysmorphic [en.wikipedia.org]

Fetal Hydantoin Syndrome

facies, cleft palate and/or lip, and cardiac defects. [medical-dictionary.thefreedictionary.com]

The abnormalities include disorders of growth and mental development, dysmorphic facies, and osteoarticular, cardiovascular, and other anomalies. [icd10data.com]

Dysmorphic facies in Fetal Hydantoin Syndrome. 4. Fig. 2. Hypoplastic nails in Fetal Hydantoin SyndromeFig.3. Fetal Hydantoin SyndromeReferences:[1] Jones KL. [de.slideshare.net]

Atelosteogenesis

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. [monarchinitiative.org]

Atelosteogenesis III (AOIII, incomplete ossification) is a short Limb skeletal dysplasia, with dysmorphic facies and Diagnostic radiographic findings. [codelay.com]

facies and diagnostic radiographic findings. [ebi.ac.uk]

Renal Agenesis

The reported Saudi Arabian patients have severe primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and renal agenesis. [ncbi.nlm.nih.gov]

We have recently described a newly recognized syndromic form of congenital microcephaly as part of a large cohort of apparently novel dysmorphic syndromes. [ncbi.nlm.nih.gov]

Hypertrichotic Osteochondrodysplasia

Hypertrichotic osteochondrodysplasia (Cantu syndrome), AD, sporadic, Unidentified, Coarse dysmorphic facies ... prominent forehead, broad nasal bridge, hypertelorism), hypertrichosis [archive.fo]

DiGeorge Syndrome

Thymic aplasia or hypoplasia, parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphic facies are characteristics features. [ncbi.nlm.nih.gov]

facies or palatal abnormalities Spectrum of disease The majority of patients with DiGeorge syndrome are recognized to have immunodeficiency in the first few months of life [esid.org]

She had congenital heart disease, dysmorphic facies, thymic hypoplasia, immunodeficiency, velopharyngeal insufficiency, scoliosis, and a hearing deficit. [ncbi.nlm.nih.gov]

Pfeiffer-Palm-Teller Syndrome

Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive [monarchinitiative.org]

Orpha Number: 2871 Definition Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel [malacards.org]

Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2871Disease definitionPfeiffer-Palm-Teller syndrome is a very rare dysmorphic [malacards.org]

Femoral Hypoplasia

The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, [ncbi.nlm.nih.gov]

[…] and "femoral hypoplasia": The femoral-facial syndrome (FH-UFS) is a rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and peculiar facies [ncbi.nlm.nih.gov]

Typical facies included micrognathia (97%), cleft palate (61.8%), and minor dysmorphic features (frontal bossing in 63.6%, short nose in 91.7%, long philtrum in 94.9%, and [omim.org]

Mucopolysaccharidosis-plus Syndrome

Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Definition A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. Acronym SGYMR Keywords Any medical or[…] [uniprot.org]

Lichtenstein Syndrome

GUISSART, C., LI, X., LEHEUP, B., DROUOT, Nathalie, MONTAUT-VERIENT, B., RAFFO, E., JONVEAUX, P., ROUX, A. F., CLAUSTRES, M., FLIEGEL, L. et KOENIG, M., 2015. Mutation of SLC9A1, encoding the major Na(+)/H(+) exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Human Molecular Genetics [en ligne]. 2015. Vol. 24, n°[…] [univoak-pprd.unistra.fr]

Lytic Bone Lesion

Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies [mayoclinic.pure.elsevier.com]

Phenotype Short stature, coarse and dysmorphic facies, bowing of the long bones, vertebral anomalies Facial features include hypertelorism, bushy eyebrows, micrognathia, small [iofbonehealth.org]

Abstract Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining [nature.com]

Sanjad-Sakati Syndrome

They have intrauterine growth retardation and dysmorphic facies. [kundoc.com]

facies, characteristic bone changes and mild mental retardation. [avicennajmed.com]

facies: (microcephaly, deep-set eyes, peaked nose, thin lips, micrognathia, low set ears, depressed nasal bridge) [Figure 2]. [ijem.in]

Parana Hard-Skin Syndrome

This causes an intrauterine fetal akinesia deformation sequence (FADS) resulting in polyhydramnios, reduced fetal movements at around 31 weeks gestation, dysmorphic facies [thedoctorsdoctor.com]

This was first described by Witt et al .(2) in 1986 as a syndrome characterized by rigid or thick skin involving the entire body, dysmorphic facies, arthrogryposis multiplex [indianpediatrics.net]

facies, arthrogryposis and respiratory insufficiency. [thedoctorsdoctor.com]