Wiedemann-Steiner Syndrome
nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted palpebral fissures[rarediseases.info.nih.gov]
Dysmorphism, including long eyelashes, thick arched eyebrows, downslanting and vertically narrow palpebral fissures, hypertelorism, low set ears, ptosis and mild facial asymmetry[ncbi.nlm.nih.gov]
Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with[mendelian.co]
Kabuki Syndrome
Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation[ncbi.nlm.nih.gov]
A one-month-old Caucasian male patient underwent our attention for microcephaly, dysmorphic features (long palpebral fissures, eyebrows with sparse lateral third, everted[ncbi.nlm.nih.gov]
nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.[ncbi.nlm.nih.gov]
Growth Failure
Common features in early childhood included fine sparse hair, epicanthic folds, wide depressed nasal bridge, broad nasal tip, and a prominent chin.[ncbi.nlm.nih.gov]
Physical examination showed growth failure and dysmorphic features including triangular face, microcephaly, outward protruding ears, short upper and lower limbs compared to[legal-dictionary.thefreedictionary.com]
The boy presented dysmorphisms: Triangular facies with severe prognathism, crossbite, low forehead and low-set ears, pectus excavatum, and disproportions of the lower limbs[asclepiusopen.com]
Sanjad-Sakati Syndrome
nasal bridge, bulbous nasal tip,antevertednares, long philtrum, thin lips and downturned corners ofmouth.[alliedacademies.org]
[…] is: Long narrow face Deep-set, small eyes Beaked nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply[dailyrounds.org]
[…] anomalies, micrognathia, and depressed nasal bridge.[ncbi.nlm.nih.gov]
Branchio-Oculo-Facial Syndrome
[…] cleft - Premature greying of hair - Short columella / depressed nasal tip - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism[csbg.cnb.csic.es]
Hypertelorism and hypotrophy of the malar areas are facial dysmorphic features of Rothmund-Thomson syndrome, but ear deformities are not well-described.[otolaryngologygr.blogspot.com]
Features of this disorder involve the head (microcephaly, small forehead, micrognathia, malar hypoplasia, broad or divided nasal tip, depressed nasal bridge, short nasal septum[accessanesthesiology.mhmedical.com]
Mowat-Wilson Syndrome
, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed[ncbi.nlm.nih.gov]
Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease.[aggr.ukm.um.si]
, saddle nose with prominent rounded nasal tip, prominent columella, open mouth with M-shaped upper lip, and a prominent but narrow and triangular pointed chin.[orpha.net]
Laron Syndrome with Immunodeficiency
nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae,[mendelian.co]
Commonly used ICD-10 code(s) when ordering the Comprehensive Short Stature Syndrome Panel ICD-10 Disease Q87.1 3-M syndrome Q87.1 Seckel syndrome Q87.1 Meier-Gorlin syndrome (Ear-patella-short[blueprintgenetics.com]
[…] and Urinary Tract 2 1 Congenital anomalies of kidney and urinary tract 3 1 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears[preventiongenetics.com]
Glutaric Aciduria Type 2
nasal bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lips, cardiomyopathy and valvular abnormalities, sensorineuronal hearing loss, enlarged[pliem.co.za]
They usually have dysplastic kidneys with multiple cysts and may also have facial dysmorphism (low-set ears, high forehead, hypertelorism and hypoplastic midface), rocker-bottom[orpha.net]
[…] alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features including large head with bulging frontal bones, depressed[pliem.co.za]
Skeletal Dysplasia
Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]
Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly[ncbi.nlm.nih.gov]
[…] including proptosis, nevus flammeus, and a cupped left ear.[ncbi.nlm.nih.gov]
Isolated Congenital Sclerocornea
nasal ridge Abnormal form of the vertebral bodies Blue sclerae Abnormality of the metaphysis Nodular goiter Abnormality of lipid metabolism Tremor Synophrys Broad nasal tip[mendelian.co]
Dysmorphic features included low-set ears, hypoplastic mandible, delicate and dry skin, narrow and arched palate, wide-spaced nipples, and hypotonia.[odlarmed.com]
Auricular abnormalities, especially small ears, are the most common dysmorphic facial feature followed by nasal and ocular abnormalities.[profiles.stanford.edu]