Dysmorphic Features: Causes & Reasons

Possible Causes for Dysmorphic Features

AR (XL) Pontocerebellar hypoplasia w/superimposed atrophy, delayed myelination Dysmorphic features, ataxia; organ failure in neonatal period RARS2 PCH6 1 AR Very rare ↑ CSF [ncbi.nlm.nih.gov]

Andersen-Tawil Syndrome

The subtle nature of the cardiac and dysmorphic features may delay the recognition of this syndrome and its potentially lethal cardiac dysrhythmias. [ncbi.nlm.nih.gov]

Andersen’s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994; 35: 326–330. 4. [jpccr.eu]

It has the clinical triad of periodic paralysis (PP), ventricular arrhythmia and dysmorphic features. [jns-journal.com]

17q11 Microdeletion Syndrome

@article{Xie2016AND, title={A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features [semanticscholar.org]

features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly… CONTINUE READING [semanticscholar.org]

Conclusions A rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features. [molecularcytogenetics.biomedcentral.com]

Familial Short Stature

Does the child have dysmorphic features or disproportionate short stature? If the child is short, is his or her growth velocity normal or impaired? [pedclerk.bsd.uchicago.edu]

Dysmorphic features present with disproportionate between low segment and high segment of the body. [drhc.ae]

Dysmorphic features: · Down syndrome (depressed nasal bridge, low set ears, up slanting eyes...etc.) · Turner syndrome (girl, webbed neck, micrognathia, increased carrying [wikidoc.org]

Mevalonate Kinase Deficiency

MA is an early-onset disorder characterized by a marked failure to thrive, diverse neurologic symptoms, dysmorphic features, and recurrent febrile episodes. [ncbi.nlm.nih.gov]

Dysmorphic and central nervous system abnormalities, anemia, and cholestasis were prominent features in 1 sibling. [ncbi.nlm.nih.gov]

Patients of MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. [genome.jp]

King Syndrome

We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. [ingentaconnect.com]

The infant was delivered prematurely; it showed no dysmorphic features and had no postpartum respiratory problems. [lumbee.library.appstate.edu]

King syndrome is characterized by the presence of a nonspecific myopathy, a susceptibility to malignant hyperthermia, and dysmorphic features similar to the phenotype seen [ncbi.nlm.nih.gov]

Cold-Induced Sweating Syndrome Type 1

features [1]. [hindawi.com]

Characteristic dysmorphic features include round face, chubby cheeks, micrognathia, camptodactyly, and progressive kyphoscoliosis. [cags.org.ae]

CLINICAL CHARACTERISTICS: Crisponi syndrome, the infantile presentation of cold-induced sweating syndrome (CISS), is characterized by dysmorphic features (distinctive facies [ncbi.nlm.nih.gov]

Sanjad-Sakati Syndrome

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. [doi.org]

Congenital hypoparathyroidism with dysmorphic features: A new syndrome. Paediatr Res 1988;23:271-80. 3. [ijcpjournal.org]

There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear [doi.org]

Kenny-Caffey Syndrome Type 1

We present here a documented case of a 7-month-old girl with the characteristic symptoms of growth retardation, dysmorphic features, and hypoparathyroidism. [scienceopen.com]

Congenital hypoparathyroidism with dysmorphic features: A new syndrome. Pediatr Res. 1988;23:71A. [Google Scholar] 8. [ncbi.nlm.nih.gov]

Record : found Abstract : found Article : not found A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. [scienceopen.com]

Goldberg-Shprintzen Syndrome

Here, we report an 18-month-old patient with microcephaly, developmental delay, dysmorphic features and HSCR. [karger.com]

features, Hirschsprung disease (HSCR), and brain anomalies. [karger.com]

features (hypertelorism, prominent nose, synophrys, sparse hair), cleft palate and iris coloboma. [humpath.com]

Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

Dysmorphic features are not expected. Most cases are sporadic, but familial cases have been reported. [epilepsydiagnosis.org]

An autosomal recessive disorder (OMIM:614080) characterised by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, congenital cardiac, urinary [medical-dictionary.thefreedictionary.com]

Definition An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies [uniprot.org]

Mulibrey Nanism Syndrome

She had severe growth failure and craniofacial dysmorphic feature. [jthc.tums.ac.ir]

features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly. [moh-it.pure.elsevier.com]

Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such [agris.fao.org]

Multiple Congenital Anomalies

In this study, we report on a male infant with a novel reciprocal 3.671 Mb microduplication at the genomic region 3q13.2q13.31 associated with dysmorphic features and multiple [ncbi.nlm.nih.gov]

We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution [ncbi.nlm.nih.gov]

We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. [ncbi.nlm.nih.gov]

Acrocallosal Syndrome

From Wikidata Jump to navigation Jump to search syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic [wikidata.org]

features, motor and mental retardation. [bioportal.bioontology.org]

features, motor and mental retardation ACLS SCHINZEL ACROCALLOSAL SYNDROME Schinzel syndrome 1 Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum ACROCALLOSAL [wikidata.org]

Oculopalatoskeletal Syndrome

Clinical features included characteristic dysmorphic features (blepharoptosis and epicanthus inversus in all patients, cleft lip and palate in two patients and dysplastic [fdna.health]

Case Presentation A four-year old Saudi girl was referred for genetic analysis after birth due to dysmorphic features. [cureus.com]

The patient was referred to the genetics department at the age of 8 months because of dysmorphic facial features. [karger.com]

Robinow Syndrome

Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external [ncbi.nlm.nih.gov]

Definition A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital [uniprot.org]

DOID:0060766 - autosomal dominant Robinow syndrome 1 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic [xenbase.org]

Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

features have a significantly higher prevalence of congenital heart disease,173 and 45X Turner Figure 7-9 Typical facial appearance of a 20-month-old girl (A) and a 24-month-old [mitchmedical.us]

[…] age Weaver syndrome Small chin, broad forehead, hypertelorism, long philtrum, camptodactyly Clinical suspicion based on dysmorphic features, renal ultrasonography, brain [aafp.org]

Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome ( CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. [mendelian.co]

Kaufman Oculocerebrofacial Syndrome

Third, we report on the first instance of homozygous missense alterations outside the HECT domain of UBE3B, observed in a patient with mildly dysmorphic facial features. [read.qxmd.com]

features, or exome sequencing. [read.qxmd.com]

features, and low cholesterol levels. [read.qxmd.com]

Donohue Syndrome

features. [ncbi.nlm.nih.gov]

DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features [ncbi.nlm.nih.gov]

Dysmorphic features, abnormalities of the craniofacial region, low birth weight, skin abnormalities, abdominal distension and hypertrichosis were observed. [ncbi.nlm.nih.gov]

Severe Neonatal-Onset Encephalopathy with Microcephaly

Examination Introduction of oneself to the parents Size of the parents & other siblings head circumference Note the child’s alertness Look for any Dysmorphic feature [slideshare.net]

features than MCD. [clinicaladvisor.com]

Infants present with dysmorphic features, hypotonia, and hyporeflexia, abnormal eye movements and poor feeding. [mrineonatalbrain.com]

Wiedemann-Steiner Syndrome

In addition to his short stature, he had other symptoms characteristic of WSS including dysmorphic features and developmental delay. [e-apem.org]

Am J Med Genet 2000 Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females Pöyhönen et al. [pubfacts.com]

She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small cerebellum [scinapse.io]

3q29 Microdeletion

CASE PRESENTATION: We report a 3-year-old male with global developmental delay, anemia, and mild dysmorphic facial features. [eunetworkadultadhd.com]

features. [ncbi.nlm.nih.gov]

The screening of individuals with minimal dysmorphic features and mental retardation as the predominant feature has resulted in the delineation of several new microdeletion [ashg.org]

Monosomy 21q

The patient has dysmorphic features, developmental delay, ventricular septal defect (VSD), inguinal hernia, seizures, and scoliosis. [omicsonline.org]

At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. [ncbi.nlm.nih.gov]

speech delay, mild dysmorphic features, PDD-NOS (d) chr21:21085454-29813876 8.73 62 (18) De novo Pathogenic Case 31 (Lyle et al., 2009) [ 2 ] Unknown Dysmorphic features [molecularcytogenetics.biomedcentral.com]

Jacobsen Syndrome

Patients with JS characteristically exhibit multiple dysmorphic features, developmental delay, cardiac anomalies, and platelet abnormalities. [jhu.pure.elsevier.com]

Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features [ncbi.nlm.nih.gov]

A 45,X karyotype was found in a boy with dysmorphic features, hypoglycaemia and pancytopenia. [ncbi.nlm.nih.gov]

Mowat-Wilson Syndrome

All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. [ncbi.nlm.nih.gov]

Mutations in ZFHX1 B can lead to neurological disorders in addition to dysmorphic features, megacolon, and other malformations. [ncbi.nlm.nih.gov]

Chromosome 19q13.11 Deletion Syndrome

We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. [pubfacts.com]

features. [ncbi.nlm.nih.gov]

Wide spectrum and variable expressivity of clinical features are recognized in several categories; developmental delay, craniofacial dysmorphic findings, growth abnormality [eymj.org]

Lymphedema Hypoparathyroidism Syndrome

Defective growth hormone secretion and hypogonadism in the new syndrome of congenital hypoparathyroidism, growth failure and dysmorphic features. [link.springer.com]

S A Sanjad, N A Sakati, Y K Abu-Osba, R Kaddoura and R D Milner, A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features., Archives [doi.org]

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]

Monosomy 1p36 Syndrome

dysmorphic and neurologic features. [einstein.pure.elsevier.com]

obesity can also be present in subtypes that feature hyperphagia (similar to Prader-Willi syndrome) dysmorphic features large (and late closure) anterior fontanelle brachycephaly [radiopaedia.org]

Dysmorphic features observed in our patient were also comparable to the previous studies. [medicalandresearch.com]

Pseudoaminopterin Syndrome

features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. [ncbi.nlm.nih.gov]

Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and [ncbi.nlm.nih.gov]

ARTICLE Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic [read.qxmd.com]

Russell-Silver Syndrome

Russell-Silver Syndrome (RSS) is a rare cause of pre-natal dwarfism, associated with recognizable dysmorphic features and limb asymmetry. [ncbi.nlm.nih.gov]

It may be possible that short intra-uterine growth retardation (IUGR) children with dysmorphic features respond to growth hormone therapy differently from non-dysmorphic IUGR [ncbi.nlm.nih.gov]

features. [ncbi.nlm.nih.gov]