delay hypoplastic corpus callosum dilated virchow-robin spaces Genitourinary External Genitalia Male: inguinal hernia short penis Head And Neck Face: smooth philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid [malacards.org]

Symptoms - Sener syndrome * Small teeth * Mouth occlusion * Abnormal tissue webbing between cheeks and gum * Thin hair * Abnormal nails * Mild developmental delay Causes - Sener syndrome Not supplied. Prevention - Sener syndrome Not supplied. [checkorphan.org]

Five of these children were said to have coarse or dysmorphic features and the remainder were referred with headaches, seizures, or developmental delay. [jmg.bmj.com]

delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperopic astigmatism 0000484 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypodontia Failure of development of between one and six teeth 0000668 Hypoplasia [rarediseases.info.nih.gov]

hernia short penis Head And Neck Face: smooth philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema Head And Neck Ears: posteriorly rotated ears small ears Head [malacards.org]

Bilateral inguinal herniae were present from 3 months and repaired at 4 months of age. Ophthalmological examination showed a hypoplastic left disc and a small coloboma of the right disc. [jmg.bmj.com]

hernia 0000023 Micropenis Short penis Small penis [ more ] 0000054 Microtia Small ears Underdeveloped ears [ more ] 0008551 Natal tooth Born with teeth Teeth present at birth [ more ] 0000695 Patent ductus arteriosus 0001643 Perivascular spaces 0012520 [rarediseases.info.nih.gov]

She was also noted to have thin hair and nail abnormalities. The author suggested that her features were consistent with ectodermal dysplasia and that her condition was slowly progressive in nature. No karyotype was reported for this patient. [jmg.bmj.com]

[…] synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal: chronic diarrhea [malacards.org]

Showing of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 [rarediseases.info.nih.gov]

[…] clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal: chronic [malacards.org]

Showing of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 [rarediseases.info.nih.gov]

Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal [malacards.org]

Dysmorphic features noted at birth included hypertelorism, a persistent large posterior fontanelle, a large anterior fontanelle, a narrow, high arched palate with midline cleft of the upper alveolar margin, two neonatal teeth, and a right inguinal hernia [jmg.bmj.com]

Symptoms - Sener syndrome * Small teeth * Mouth occlusion * Abnormal tissue webbing between cheeks and gum * Thin hair * Abnormal nails * Mild developmental delay Causes - Sener syndrome Not supplied. Prevention - Sener syndrome Not supplied. [checkorphan.org]

7] ] Other causes for the persistence of primary teeth include translation or transmigration of successor teeth, existence of pathology, such as cysts, tumors, and odontoma under the primary tooth that results in the impaction of successor teeth and microdontia [jorr.org]

Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal: chronic diarrhea anteriorly placed anus Head And Neck Teeth: hypodontia neonatal teeth delayed eruption [malacards.org]

Showing of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 [rarediseases.info.nih.gov]

[…] virchow-robin spaces Genitourinary External Genitalia Male: inguinal hernia short penis Head And Neck Face: smooth philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema [malacards.org]

[…] of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 Eczema [rarediseases.info.nih.gov]

2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]

Figure 1 (A, B) Front and side view of case 1 showing hypertelorism, a wide mouth, and posteriorly rotated ears. [jmg.bmj.com]

Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal [malacards.org]

[…] eruption of permanent teeth Delayed eruption of adult teeth 0000696 Eczema 0000964 Entropion Eyelid turned in 0000621 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperopic astigmatism 0000484 Hypertelorism [rarediseases.info.nih.gov]

Features noted at birth included neck oedema, a large anterior fontanelle (6 cm 7 cm), a short penis with a large scrotum, and an anteriorly placed anus. [jmg.bmj.com]

Brainstem dysgenesis: Möbius, Cogan and Pierre Robin syndromes revisited. in Anales de Pediatría 62, 346–351 (Elsevier, 2005). 3. Roig-Quilis M, Pennington L. Oromotor disorders arising from the brainstem. In: Roig-Quilis M, Pennington L, editors. [moebiussyndrome.info]

He had delayed milestones of development in the form of not able to stand or walk and not spoken a word. He had microcephaly ( 3 rd centile) without any neurocutaneous marker or facial asymmetry. [ncbi.nlm.nih.gov]

Updates to genetics and circadian rhythms, occupational health, sleep in older people, memory and sleep, physical examination of the patient, comorbid insomnias, and much more keep you current on the newest areas of the field. [books.google.com]

delays were observed in 60%, 82%, 92%, 54%, 48%, 35%, 53%, 20%, and 46% of patients, respectively. 8 Our patient had truncal obesity, acanthosis nigricans, retinal degeneration, mental retardation, sensorineural deafness, hyperinsulinism, type 2 diabetes [pediatrics.aappublications.org]

[…] loss, insulin resistance and obesity, and cardiomyopathy in infancy or adolescence. 3, 5 Other features that may present are short stature, bladder instability, chronic renal and hepatic dysfunction, early-onset type 2 diabetes, and hypothyroidism, hypertriglyceridemia [pediatrics.aappublications.org]