Abnormal Facies Causes & Reasons

Symptomchecker

Neu Starten

Ad Html Headline Ad Text Headline

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Restart test

Caution! In case of an emergency:

Seek emergency care

Hi, I'm Symptoma.

Abnormal Facies Symptom Checker: Possible causes include Young-Simpson Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Possible Causes

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. doi : 10.1136/jmg.24.11.715. [en.wikipedia.org]

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

Show info

Aarskog-Scott Syndrome

He had abnormal facies, short stature, short fingers with interdigital webbing, a saddle type scrotum and mild mental retardation. [ncbi.nlm.nih.gov]

Scott Dagfinn Aarskog A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. [whonamedit.com]

Show info

Persistent Fifth Aortic Arch

facies, thymic hypoplasia, canopy anomaly of the palate (high-arched palate, rather than cleft palate), and hypocalcemia (or hypoparathyroidism). [ncbi.nlm.nih.gov]

The combination has been referred to collectively with the acronym CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia together with [quizlet.com]

[…] patients had the cardinal phenotypic features of 22q11.2 deletion syndrome, including cardiovascular malformations (conotruncal malformations and aortic arch anomalies), abnormal [ncbi.nlm.nih.gov]

Show info

Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy [medlink.com]

Cerebro-oculo-facio-skeletal (COFS) syndrome was described by Pena and Shokeir as a combination of severe microcephaly and ocular abnormalities with characteristic facies [indianpediatrics.net]

Key points • Cerebro-oculo-facio-skeletal syndrome is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration [medlink.com]

Show info

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]

Show info

Femoral Hypoplasia

[…] thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. [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]

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

Show info

Pfeiffer-Palm-Teller Syndrome

Crumpled helices and small mouth 0 *Abnormalities, Multiple *Cleft Palate *Growth Disorders *Micrognathism *Facies Fingers/abnormalities Hair/abnormalities Toes/abnormalities [reference.md]

Adducted thumb and clubfoot syndrome 0 *Clubfoot *Abnormalities, Multiple Thumb/abnormalities. Bowen syndrome 0 *Abnormalities, Multiple *Contracture *Glaucoma *Facies. [reference.md]

*Abnormalities, Multiple *Dental Enamel Hypoplasia *Growth Disorders *Joint Diseases. [reference.md]

Show info

Growth Failure

Chromosome abnormalities are involved in these disease among them chromosomes 7 and 17 are frequently involved. [medcraveonline.com]

Figure 1: The boy was appeared to be cryptorchidism, triangular facies, maxillary hypoplasia, and his height and weight are less than 3 rd percentiles. [medcraveonline.com]

Show info

Sleep Apnea

Physical findings may include growth abnormalities, signs of nasal obstruction, adenoidal facies, enlarged tonsils, increased pulmonic component of second heart sound, and [aafp.org]

Note that patients may have no abnormalities on examination. [aafp.org]

Syndrome (OSAS) in Children *--Historical findings associated with OSAS include habitual snoring with labored breathing, observed apnea, restless sleep, daytime neurobehavioral abnormalities [aafp.org]

Show info

Ondine Syndrome

An abnormal facies was noted in one case. [adc.bmj.com]

She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. [tandfonline.com]

Show info

Bilateral Multicystic Dysplastic Kidney

In bilateral cases, the newborn has the classic abnormal facies and oligohydramnios characteristic of Potter's syndrome. [dixion-healthcare.com]

Oligohydramnios results in the abnormal facies due to the compression of the developing face against the inner uterine wall. [elearning.sumdu.edu.ua]

MCDK is typically unilateral, but bilateral MCDKs have been reported in stillborn infants with oligohydramnios and Potter syndrome facies. [mhmedical.com]

Show info

17q11 Microdeletion Syndrome

Facies Female Humans Infant Infant, Newborn Intellectual Disability Karyotyping Learning Disorders Magnetic Resonance Imaging Male Neurofibromatoses Phenotype Case Reports [moh-it.pure.elsevier.com]

Cardiac defects in 50% Mental retardation, Microcephaly Most are stillborn or die in infancy Frequent seizures 85-90% de novo deletions abnormal facies. [slideplayer.com]

Leseprobe - 2008 Häufige Begriffe und Wortgruppen androgen aniridia arm of chromosome Autosomal baby balanced translocation Blood Group Chimaera cell line characteristic facies [books.google.de]

Show info

Coffin-Lowry Syndrome

This paper discusses a family presenting with features of Coffin-Lowry syndrome, namely abnormal facies, skeletal abnormalities and mental handicap. [ncbi.nlm.nih.gov]

Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short [ncbi.nlm.nih.gov]

A syndrome of mental retardation and osteocartilaginous abnormalities with peculiar facies. [accessanesthesiology.mhmedical.com]

Show info

Familial Hypercholanemia

• Patients have an abnormal head shape and unusual facies • hepatomegaly, renal cortical cysts • stippled calcifications of the patellas and greater trochanter • ocular [slideshare.net]

abnormalities. • Hepatic cells has absence of peroxisomes 42. [slideshare.net]

Show info

Lynch Syndrome

The disorder is characterized by cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia (CATCH-22). [integratedgenetics.com]

Show info

Pathological Fracture

facies. [ncbi.nlm.nih.gov]

[…] a multisystem disorder, which is characterized by hypoplasia of the intrahepatic bile ducts, malformations of the cardiovascular system, eyes, and vertebral column, and abnormal [ncbi.nlm.nih.gov]

Show info

Preeclampsia

congenital anomalies (suggestive of chromosomal abnormality, syndrome, or intrauterine drug exposure), and also features of congenital viral infection, especially the TORCH [doi.org]

[…] infant • Poor breast bud formation and immature female genitalia If the infant is symmetrical IUGR, then these infants can have other features such as associated dysmorphic facies [doi.org]

Show info

Familial Hypercholesterolemia Type 1

Gait 3 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 4 Merosin Deficient Congenital Muscular Dystrophy 5 Metachondromatosis 1 Metachromatic Leukodystrophy 2 Metaphyseal [preventiongenetics.com]

X-Linked, With Or Without Seizures, Arx-Related 4 Mental Retardation, X-Linked, With Panhypopituitarism 1 Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal [preventiongenetics.com]

Show info

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]

Show info

Haddad Syndrome

An abnormal facies was noted in one case. [adc.bmj.com]

Show info

Penoscrotal Transposition

facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). [ncbi.nlm.nih.gov]

There was no abnormal facies. Limbs and spine were normal. [jneonatalsurg.com]

[…] the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal [ncbi.nlm.nih.gov]

Show info

Hypocalcemia

Abnormal facies: cleft palate, micrognathia, ear abnormalities. Familial autoimmune polyglandular syndrome type I (APS-I): Chronic mucocutaneous candidiasis. [patient.info]

These syndromes, and their associated features, are as follows: DiGeorge syndrome: congenital heart disease, cleft palate/lip, and abnormal facies Kearns-Sayre syndrome: heart [emedicine.com]

The thymus gland, aortic arch and parts of the lips and ears also develop from these pouches.There is hypoparathyroidism, T-cell immune deficiency, abnormal facies such as [patient.info]

Show info

Alagille Syndrome

facies. [ncbi.nlm.nih.gov]

peculiar facies, ocular abnormalities, and cardiovascular disorders. [ncbi.nlm.nih.gov]

abnormalities and characteristic facies. [ncbi.nlm.nih.gov]

Show info

Primary Immune Deficiency Disorder

facies Immunodeficiency syndrome deficiencies 39. [slideshare.net]

abnormal facies; infection SCID • T-, B – γc deficiency – JAK3 deficiency • T-, B- – ADA deficiency – RAG 1/2 deficiency Severe, recurrent opportunistic infections; failure [ncbi.nlm.nih.gov]

abnormal facies; infection SCID • T -, B – γ c deficiency – JAK3 deficiency • T -, B - – ADA deficiency – RAG 1/2 deficiency Severe, recurrent opportunistic infections; [aacijournal.biomedcentral.com]

Show info

Cutis Laxa

Affected infants have an abnormal facies, generalized laxity of the skin, hernias, gastrointestinal and genitourinary tract diverticula, pulmonary emphysema, cor pulmonale [caribbean.scielo.org]

facies characteristic of Sotos syndrome. [jmg.bmj.com]

The facies are coarse with thick lips, macroglossia and relative macrocephaly. [caribbean.scielo.org]

Show info

Spontaneous Rupture of Membranes

The nonpulmonary features include abnormal facies and limb-positioning abnormalities.147 The newborn may have low-set ears and epicanthal folds. [glowm.com]

abnormalities. [slideshare.net]

Prolonged oligohydramnios also can result in fetal deformations, including Potter-like facies (eg, low-set ears and epicanthal folds) and limb contractures or other positioning [slideshare.net]

Show info

Fibrinous Bronchitis

[…] chest sounds Bark-like cough, stridor Muffled, guttural cough Swallowing Normal Difficult, with drooling Facies Normal Anxious, distressed, toxic Response to racemic epinephrine [atsu.edu]

Viral Croup Epiglottitis Etiology Parainfluenza virus Haemophilus influenzae type b Age of patient 6 month–3 years 2–7 years Onset of disease Gradual Sudden Fever Mild 38 C Abnormal [atsu.edu]

Show info

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]

Show info

Patau Syndrome

facies: 90%, strong marker cleft lip /- palate: 45% 9 microphthalmia: rarely anophthalmia 10 micrognathia 6 hypotelorism hypertelorism cyclopia proboscis skeletal abnormalities [radiopaedia.org]

[…] agenesis of the corpus callosum persistent stapedial artery 5 retinal dysplasia 3 spinal anomalies spina bifida intrauterine growth restriction (IUGR): tends to be early abnormal [radiopaedia.org]

Show info

Congenital Mandibular Hypoplasia

CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia and a variable deletion on chromosome 22q11. [ncbi.nlm.nih.gov]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.