Bloom Syndrome
Bloom syndrome - congenital telangiectatic erythema and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull.[medical-dictionary.thefreedictionary.com]
Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov]
People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]
Kaufman Oculocerebrofacial Syndrome
Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies[ncbi.nlm.nih.gov]
face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely[signssymptoms.org]
This rare genetic medical condition is characterized by some abnormal looking facial features including small head, narrow face, eye anomalies, small mandible, upslanting[signssymptoms.org]
Seckel Syndrome
Small head, large eyes, beak-like nose, narrow face, and receding mandible. Laryngeal stenosis.[accessanesthesiology.mhmedical.com]
Other features of SCKL include microcephaly (small head) with intellectual disability, unique facial features such as large eyes, narrow face, “beak-like” protrusion of the[secure.ssa.gov]
face malformed ears unusually small jaw (micrognathia) low intelligence, often severe (IQ less than 50) Others may include: abnormally large eyes high arched roof of the[walkingwithgiants.org]
Sanjad-Sakati Syndrome
face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency.[orpha.net]
face Deep-set, small eyes Beaked nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply[dailyrounds.org]
[…] birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow[orpha.net]
Microdeletion 3q29 Syndrome
The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly[orpha.net]
The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short[research.manchester.ac.uk]
[…] anomalies Chromosomal diseases Constitutional deletions 3q29 microdeletion syndrome Synopsis mild-to-moderate mental retardation slightly dysmorphic facial features long and narrow[humpath.com]
Marfan Syndrome
[…] view 613 KB version view 3 KB version A young man with Marfan syndrome, showing characteristically long limbs and narrow face. view 369 KB version view 5 KB version Arachnodactyly[medgen.genetics.utah.edu]
Other symptoms include: heart problems, crowded teeth, an abnormally long arm span, narrow face, thin body, and sunken chest.[upvoted.com]
face Many people with Marfan syndrome suffer from chronic muscle and joint pain.[nlm.nih.gov]
Renpenning Syndrome
From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes[wikidata.org]
Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous[malacards.org]
[…] phenotypes are malar flattening and intellectual disability Disease Ontology : 12 An intellectual disability that is characterized by small head size (microcephaly), long narrow[malacards.org]
Sotos Syndrome
Her mother also had tall stature and a long narrow face. The baby and her mother were suspected of having familial SS.[ncbi.nlm.nih.gov]
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.[uniprot.org]
Sotos syndrome: a genetic condition that leads to a characteristic facial appearance (long, narrow face, reddened cheeks, high forehead, small chin) as well as delayed mental[medicinenet.com]
Cystitis
Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression with narrow eye openings (blepharophimosis) and pursed lips.[ncbi.nlm.nih.gov]
Dubowitz Syndrome
Short and narrow face Small facies [ more ] 0000274 Syndactyly Webbed fingers or toes 0001159 Velopharyngeal insufficiency Velopharyngeal incompetence 0000220 Wide nasal[rarediseases.info.nih.gov]
[…] frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Narrow[rarediseases.info.nih.gov]
face Decreased breadth of face Decreased width of face [ more ] 0000275 Postnatal growth retardation Growth delay as children 0008897 Protruding ear Prominent ear Prominent[rarediseases.info.nih.gov]