Dysmorphic Facies: Causes & Reasons

Possible Causes for Dysmorphic Facies

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]

Mucolipidosis

Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies [rarediseases.oscar.ncsu.edu]

[…] 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]

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]

Congenital Disorder of Glycosylation Type 2J

Severe forms involved myoclonia and asymmetrical suppression bursts on EEG, multiple anomalies with a dysmorphic face and delayed myelination with restricted diffusion patterns [ncbi.nlm.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

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

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

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

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]

Renpenning Syndrome

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

Absent Thumb - Short Stature - Immunodeficiency Syndrome

RIDDLE is an acronym for the major features of this syndrome: radiosensitivity, immunodeficiency, dysmorphic facies, and learning difficulties (Stewart et al., 2007). [ncbi.nlm.nih.gov]

[…] 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]

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]

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]

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]

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]

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]

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]

Acrootoocular Syndrome

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

It is an X-linked mental retardation syndrome that can include microcephaly, short stature, small testes, dysmorphic facies, ocular colobomas, cardiac malformations, cleft [bredagenetics.com]

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]

Distal Hereditary Motor Neuropathy Type 9

Facies, Fetal Akinesia Deformation Sequence AR 99.97 6 of 6 MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 NALCN Congenital Contractures Of [igenomix.es]

Pseudocamptodactyly Syndrome AD 100 6 of 6 MYO9A Congenital Myasthenic Syndrome AR 99.62 7 of 7 MYOD1 Congenital Myopathy With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic [igenomix.es]

Charcot-Marie-Tooth Disease Type 2M

Facies, Fetal Akinesia Deformation Sequence AR 99.97 6 of 6 MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 NALCN Congenital Contractures Of [igenomix.es]

Familial Omphalocele Syndrome with Facial Dysmorphism

Facies, Retinal Dystrophy, And Myopathy, Spermatogenic Failure AD,AR 99.85 3 of 3 PTCH1 Basal Cell Nevus Syndrome, Holoprosencephaly, Alobar Holoprosencephaly, Gorlin Syndrome [igenomix.es]

Syndrome AR 100 1 of 2 PORCN Focal Dermal Hypoplasia X,XD,G 100 NA of NA PPP1R12A Genitourinary And/Or/Brain Malformation Syndrome AD 99.48 1 of 1 PPP2R3C Gonadal Dysgenesis, Dysmorphic [igenomix.es]

Microcephaly - Facial Abnormalities - Micromelia - Mental Retardation

Facies AD 94.13 5 of 5 RBBP8 Jawad Syndrome, Seckel Syndrome AR 96.02 6 of 6 RECQL4 Baller-Gerold Syndrome, Rapadilino Syndrome, Rothmund– Thomson Syndrome AR 96.72 134 of [igenomix.es]

Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome AD 99.97 609 of 629 RAB23 Carpenter Syndrome AR 100 15 of 15 RAC3 Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic [igenomix.es]

Chromosome 16p13.2 Deletion Syndrome

Characteristic features were present including heart defects, thymic apalsia or hypoplasia, hypocalcemia, and dysmorphic facies. [ncbi.nlm.nih.gov]

Craniosynostosis Type Fontaine

Facies AD 94.13 5 of 5 RBBP8 Jawad Syndrome, Seckel Syndrome AR 96.02 6 of 6 RECQL4 Baller-Gerold Syndrome, Rapadilino Syndrome, Rothmund– Thomson Syndrome AR 96.72 134 of [igenomix.es]

Dominant Intermediate Charcot-Marie-Tooth Disease

Facies, Fetal Akinesia Deformation Sequence AR 99.97 6 of 6 MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 NALCN Congenital Contractures Of [igenomix.es]

Infantile-Onset Distal Myopathy

Facies, Fetal Akinesia Deformation Sequence AR 99.97 6 of 6 MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 NALCN Congenital Contractures Of [igenomix.es]

Chromosome 19q Duplication

An unusual dup(19q) presented by Quack at al4 described a supernumerary ring chromosome in an overweight boy with dysmorphic facies and mental retardation. [jmg.bmj.com]

X-Linked Recessive Corpus Callosum Dysgenesis

Facies, With Or Without Seizures AR 96.78 4 of 4 TUBGCP6 Microcephaly With Chorioretinopathy AR 99.49 12 of 13 VAC14 Childhood-Onset Striatonigral Degeneration, Yunis-Varon [igenomix.es]

Mutation AD 99.96 30 of 30 TUBG1 Complex Cortical Dysplasia, With Other Brain Malformations AD 99.94 10 of 10 TUBGCP2 Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic [igenomix.es]

Glutamyl Ribose-5-Phosphate Storage Disease

Facies, Retinal Dystrophy, and Myopathy GND014 GDRM Gonadal Dysgenesis, Xy Type, with Associated Anomalies GND012 Gonadal Germ Cell Tumor GND015 Gonadoblastoma GND001 GBY [malacards.org]

Facies GLB021 GDACCF Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLB024 GLOW Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine [malacards.org]

GLB026 GDPAG Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome GLB028 Global Developmental Delay-Osteopenia-Ectodermal [malacards.org]

Uniparental Disomy of Chromosome 16

facies Genetic determinism Case study Family study Mosaicism Mother Infant Pathogenesis Phenotype Placenta Breakpoint Chromosome translocation Trisomy Chromosomal aberration [pascal-francis.inist.fr]

[…] chromosomique Aneuploïdie Chromosome anormal Homme Stomatologie Keyword (en) Centromere Abnormal chromosome C10 Abnormal chromosome E16 Chromosome E16 Uniparental disomy Dysmorphic [pascal-francis.inist.fr]