Abnormal Facies: Causes & Reasons

Possible Causes for Abnormal Facies

Pancytopenia - Developmental Delay Syndrome

DiGeorge syndrome and velocardiofacial syndrome - typical features may include abnormal facies, cleft lip/palate, cardiac defects, recurrent infections due to lack of thymus [pedclerk.bsd.uchicago.edu]

Young-Simpson Syndrome

Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. [doi.org]

"Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation". J Med Genet. 24 (11): 715–6. PMC 1050356. [wikidoc.org]

Subject: multiple congenital anomalies/mental retardation (MCA/MR) syndrome hypothyroidism blepharophimosis abnormal facies Ohdo syndrome Ohdo-like blepharophimosis syndrome [repositorio.unicamp.br]

DiGeorge Syndrome

Major features of this syndrome have been designated by the newcastle upon tyne group catch 22 (cardiac, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia [icd9data.com]

The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, congenital heart defects, hypoparathyroidism [ncbi.nlm.nih.gov]

C: Cardiac defect, A: Abnormal facies, T: Thymic hypoplasia, C: Cleft palate and H: Hypocalcemia. In our patient, all these features were present. [casereports.in]

Wiedemann-Steiner Syndrome

Synonyms A syndrome of abnormal facies, short stature, and psychomotor retardation Hairy elbows, short stature, facial dysmorphism, and developmental delay Wiedemann Grosse [rarediseases.org]

A syndrome of abnormal facies, short stature, and psychomotor retardation. [ijp.mums.ac.ir]

Wiedemann HR, Kunze J, Grosse FR, Dibbern H: A syndrome of abnormal facies, short stature, and psychomotor retardation, in Wiedemann HR, Kunze J, Grosse FR, Dibbern H (eds [karger.com]

Thymic Aplasia

[…] specially if associated with abnormal facies. [ispub.com]

ABNORMAL FACIES 9. THYMIC APLASIA or HYPOPLASIA ▪ Lack of embryonic development or underdevelopment od 3rd or 4th pharyngeal pouches 10. CLEFT LIP AND CLEFT PALATE 11. [slideshare.net]

“ a ” : abnormal facies ( hypertelorism, low set ear, prominent nose), “ T ” : T-cell defects (secondary to abnormal development of the thymus), “ c ” : cleft palate, “ [med.kindai.ac.jp]

Zori-Stalker-Williams Syndrome

distinctive facies, and dysplastic nails; Pectus excavatum, macrocephaly and dysplastic nailsFamilial short stature, developmental delay, pectus abnormalities, distinctive [rarediseases.info.nih.gov]

Synonyms Pectus excavatum, macrocephaly and dysplastic nails Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails Overview [rarediseases.org]

"A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". [en.wikipedia.org]

Macrocephaly Type Fryns

macrostomia, wide-set eyes, palatal abnormalities), polydactyly, syndactyly, CHD & mild-to-severe ID ± structural brain anomalies Overgrowth, skeletal anomalies, & tumors [ncbi.nlm.nih.gov]

Other Characteristic Features GPC3 GPC4 2 Simpson-Golabi-Behmel syndrome type 1 (SGBS1) XL Rare Overgrowth (pre- & postnatal), macrocephaly, dysmorphic features (coarse facies [ncbi.nlm.nih.gov]

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]

abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). [orpha.net]

Uniparental Disomy of Chromosome 16

[…] chromosome C10 Abnormal chromosome E16 Chromosome E16 Uniparental disomy Dysmorphic facies Genetic determinism Case study Family study Mosaicism Mother Infant Pathogenesis [pascal-francis.inist.fr]

Phenotype Placenta Breakpoint Chromosome translocation Trisomy Chromosomal aberration Aneuploidy Abnormal chromosome Human Stomatology Keyword (es) Centrómero Cromosoma C10 [pascal-francis.inist.fr]

Phénotype Placenta Point cassure Translocation chromosomique Trisomie Aberration chromosomique Aneuploïdie Chromosome anormal Homme Stomatologie Keyword (en) Centromere Abnormal [pascal-francis.inist.fr]

17q11 Microdeletion Syndrome

Brain Child Chromosome Deletion Chromosome Duplication Chromosomes, Human Chromosomes, Human, Pair 17 Comparative Genomic Hybridization Craniofacial Abnormalities Facies Female [moh-it.pure.elsevier.com]

Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components. [rarediseases.oscar.ncsu.edu]

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]

Kennerknecht Syndrome

Anesthetic considerations Abnormal facies and short neck may cause difficulties with face-mask ventilation and/or laryngoscopy for tracheal intubation. [accessanesthesiology.mhmedical.com]

Platelet-Type Bleeding Disorder 21

abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. [rarediseases.info.nih.gov]

Sciences Summary Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies [rarediseases.info.nih.gov]

3-Methylglutaconic Aciduria Type 5

Abnormality of head or neck Broad forehead Full cheeks High forehead Mandibular prognathia Myopathic facies Pointed chin Round face Abnormality of limbs Clubfoot Abnormality [ncbi.nlm.nih.gov]

[from GeneReviews] Show allHide all Abnormal cellular phenotype Abnormal mitochondrial morphology Abnormality of blood and blood-forming tissues Hypochromic microcytic anemia [ncbi.nlm.nih.gov]

Chromosome 15q25 Deletion Syndrome

(micrognathia, triangular facies, low-set ears, strabismus, blepharophimosis and broad nasal bridge), congenital cardiac anomalies (septal defects), male genitalia abnormalities [ec.bioscientifica.com]

[…] review of 25 cases, the following main features were found: IUGR (100%), variable degree of mental retardation (95%), microcephaly (88%), hypertelorism (46%) and triangular facies [ec.bioscientifica.com]

42%), delayed bone age (75%), brachydactyly (44%), speech delay (39%) frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism (30%), cardiac abnormalities [ec.bioscientifica.com]

Ischio-Coxo-Podo-Patellar Syndrome

These were all abnormal. He was said to have an “unusual facies” with flattened nose and prominent forehead but no further information was available. [onlinelibrary.wiley.com]

These were all abnormal. He was said to have an "unusual facies" with flattened nose and prominent forehead but no further information was available. [pubmed.ncbi.nlm.nih.gov]

Patient 1 who was fully investigated had an unusual facies with characteristic morphological abnormalities of the forefoot and generalized bone changes. [onlinelibrary.wiley.com]

Hallermann-Streiff Syndrome

Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities. [ncbi.nlm.nih.gov]

It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism. [ncbi.nlm.nih.gov]

Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, dental abnormalities, and hypotrichosis. [ncbi.nlm.nih.gov]

Maroteaux-Stanescu-Cousin Syndrome

Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components. [rarediseases.oscar.ncsu.edu]

Facial examination showed abnormal features with characteristic dysmorphic facies including broad wide forehead with sparse hair, sparse eye brows, round flat face, prominent [karger.com]

Distal Trisomy 14q

Abstract A child is described with multiple congenital abnormalities including microcephaly, odd facies, Fallot's tetralogy, and absent parathyroids. [ncbi.nlm.nih.gov]

Filippi Syndrome

facies. [docksci.com]

Abstract Filippi syndrome is an autosomal recessive condition characterized by syndactyly of fingers and toes, microcephaly, growth retardation and abnormal facies. [ncbi.nlm.nih.gov]

[…] and abnormalities of the distal portions of the limbs and the digits. [link.springer.com]

Congenital Disorder of Glycosylation Type 1L

Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components. [rarediseases.oscar.ncsu.edu]

Syndromic Diarrhea

Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. [doi.org]

THE syndrome was primarily described by Stankler et al. in 1982, in two siblings, presenting with diarrhea, failure to thrive, abnormal facies, and unusual hair [2]. [hindawi.com]

Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. Arch Dis Child. 1982;57:212-6. [ijpediatrics.com]

Congenital Disorder of Glycosylation Type 1H

Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components. [rarediseases.oscar.ncsu.edu]

Joubert Syndrome Type 16

facies.[10][8] Physical examination Patients with JS ocular phenotypes present with oculomotor apraxia (80% of patients), strabismus (74%), nystagmus (72%), ptosis (44%), [eyewiki.org]

facies (Parisi, 2003; Wang, 2018).[11][8] Physical examination Patients with JS ocular phenotypes present with oculomotor apraxia (80%), strabismus (74%), nystagmus (72%) [eyewiki.aao.org]

[…] can also present with renal disease (e.g., juvenile nephronophthisis), hepatic fibrosis, occipital encephalocele, polydactyly, oral hamartomas, endocrine disorders, and abnormal [eyewiki.org]

6q25 Microdeletion Syndrome

Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components. [rarediseases.oscar.ncsu.edu]

The constellation of symptoms described includes characteristic facies, developmental delay, growth delay, urogenital abnormalities, brain malformations, and cardiovascular [medcraveonline.com]

Femoral Hypoplasia

[…] thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. [ncbi.nlm.nih.gov]

The femoral hypoplasia-unusual facies syndrome is a very rare association of femora and facial abnormalities. [ncbi.nlm.nih.gov]

Femoral hypoplasia-unusual facies syndrome comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities [ncbi.nlm.nih.gov]

3-Methylglutaconic Aciduria Type 8

Abnormality of head or neck Broad forehead Full cheeks High forehead Mandibular prognathia Myopathic facies Pointed chin Round face Abnormality of limbs Clubfoot Abnormality [ncbi.nlm.nih.gov]

[from GeneReviews] Show allHide all Abnormal cellular phenotype Abnormal mitochondrial morphology Abnormality of blood and blood-forming tissues Hypochromic microcytic anemia [ncbi.nlm.nih.gov]

Neonatal Hypotonia

A newborn with hypotonia and abnormal facies Endgames Picture Quiz BMJ 2011 ; 342 doi: https://doi.org/10.1136/bmj.d2938 (Published 08 June 2011) Cite this as: BMJ 2011;342 [bmj.com]

In cases with abnormal facies and dysmorphology, gentic study has been limited to karyotype, as a result of which it is possible to mistakenly classify some of these cases [pjms.com.pk]

facies or dysmorphology, genetic tests were done. [pjms.com.pk]

Simpson-Golabi-Behmel Syndrome Type 2

Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components. [rarediseases.oscar.ncsu.edu]

supernumerary nipples, and renal and skeletal abnormalities; Xp22: lethal form, multiple organ anomalies, hydrops fetalis, and death within first 8 weeks of life. [accessanesthesiology.mhmedical.com]

3-Methylglutaconic Aciduria Type 1

Abnormality of head or neck Broad forehead Full cheeks High forehead Mandibular prognathia Myopathic facies Pointed chin Round face Abnormality of limbs Clubfoot Abnormality [ncbi.nlm.nih.gov]

[from GeneReviews] Show allHide all Abnormal cellular phenotype Abnormal mitochondrial morphology Abnormality of blood and blood-forming tissues Hypochromic microcytic anemia [ncbi.nlm.nih.gov]

C Syndrome

Man aged 22 years, born to healthy, nonconsanguineous parents, evaluated at age 12 years for growth restriction of prenatal onset, microcephaly, cleft palate, abnormal facies [analesdepediatria.org]

Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities; the biochemical [icd10data.com]

Microcephaly or trigonocephaly / significant (but not fused) metopic ridge, synophrys, glabellar, and hypotonic facies with broad cheeks, are some of the facial abnormalities [news-medical.net]