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]
Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed[rarediseases.info.nih.gov]
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]
nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.[ncbi.nlm.nih.gov]
Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasal tip, and high arched palate, and[ncbi.nlm.nih.gov]
Missing:
Facial Appearance Becomes More Apparent with Age
Coffin-Lowry Syndrome
Pitt-Hopkins syndrome is characterized by distinctive facial features that become more apparent with age, significant developmental delay / intellectual disability, and episodic[ncbi.nlm.nih.gov]
[…] findings including depressed bridge, blunt tip, and thick alae nasi and septum, resulting in small nares Wide mouth, usually held open; thick vermilion of the upper and lower[ncbi.nlm.nih.gov]
Genital anomalies range from hypospadias and undescended testes to severe hypospadias and ambiguous genitalia, to normal-appearing female genitalia in individuals with a 46[ncbi.nlm.nih.gov]
Stickler Syndrome Type 2
becoming more apparent with age.[quizlet.com]
Midface hypoplasia, depressed nasal bridge in childhood, anteverted nares (tipped or bent nasal cavity openings), split uvula, cleft hard palate, micrognathia, Pierre-Robin[encyclopedia.com]
[…] joints 0003040 Autosomal dominant inheritance 0000006 Bifid uvula 0000193 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal[rarediseases.info.nih.gov]
Strabismus
Abstract Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental[ncbi.nlm.nih.gov]
Missing:
Facial Appearance Becomes More Apparent with Age
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]
A facial gestalt is apparent across the patient group, with fine sparse hair, epicanthic folds, wide depressed nasal bridge, broad nasal tip, and prominent chin in early childhood[ncbi.nlm.nih.gov]
Missing:
Facial Appearance Becomes More Apparent with Age
Deviated Nasal Septum
[…] in the middle of your nose), or your nasal tip can droop down.[doctorstevenpark.com]
L strut supports your nose and removing too much of any part of this L strut without reinforcement or reconstruction can lead to what’s called a saddle nose deformity (a depression[doctorstevenpark.com]
Missing:
Facial Appearance Becomes More Apparent with Age
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]
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]
Fundus examination revealed no glow(OS).On examination branchial cyst excision scar of 2.5cm length below angle of mandible seen on right side,depressed nasal bridge,broad[proceedings.aios.org]
Missing:
Facial Appearance Becomes More Apparent with Age
Eye Muscle Disorder
Kabuki Syndrome Characteristics include facial features such as arched eyebrows with sparseness in the outer half, misshapen or prominent ears, depressed nasal tip; skeletal[apraxia-kids.org]
Missing:
Facial Appearance Becomes More Apparent with Age
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]
, 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]
[…] forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression[ncbi.nlm.nih.gov]
Missing:
Facial Appearance Becomes More Apparent with Age