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3,849 Possible Causes for Absent Pulp Chambers, Short Neck, Sparse Hair

  • Costello Syndrome

    […] less coarse facial features and slow growing, sparse hair with abnormal texture, the latter resembling the pattern observed in Noonan syndrome-like disorder with loose anagen[ncbi.nlm.nih.gov] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[ncbi.nlm.nih.gov] Cutaneous manifestations are: loose skin of the hands and feet "washer woman's hand", hyperkeratosis palmoplantaris, curly or sparse hair, acanthosis nigricans, papillomata[ncbi.nlm.nih.gov]

    Missing: Absent Pulp Chambers
  • Goldberg-Shprintzen Syndrome

    hair), cleft palate and iris coloboma.[humpath.com] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias[diseaseinfosearch.org]

    Missing: Absent Pulp Chambers
  • Pallister-Killian Syndrome

    The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, hypopigmented patches, frontal bossing, hearing loss, hypertrophic dilated cardiomyopathy[ncbi.nlm.nih.gov] Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal[ncbi.nlm.nih.gov] […] ridges, hypertelorism, flat nasal bridge, long philtrum, short neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual[symptoma.com]

    Missing: Absent Pulp Chambers
  • Noonan Syndrome

    Slow growing and/or sparse hair and/or an unruly hair texture was present in all. Three individuals had feeding difficulties requiring feeding tubes.[ncbi.nlm.nih.gov] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] hair Low muscle tone Large head size Dermatologic findings (hyperpigmentation, keratoses, hemangiomas, dry skin) Bleeding diathesis Lymphatic dysplasia Characteristic facial[unmc.edu]

    Missing: Absent Pulp Chambers
  • Cranioectodermal Dysplasia 2

    hair, skin laxity, abnormal nails), joint laxity, growth retardation, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus[ncbi.nlm.nih.gov] […] fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck.[uniprot.org] […] eyebrow ; Sparse eyelashes ; Sparse hair ; Splenomegaly ; Syndactyly ; Telecanthus ; Upslanted palpebral fissure ; Wide nasal bridge ; Widely spaced teeth Associated Genes[mousephenotype.org]

    Missing: Absent Pulp Chambers
  • Coats Plus Syndrome

    hair, and dysplastic nails without cyst formation.[ncbi.nlm.nih.gov] […] femoral neck or genua valga.[ncbi.nlm.nih.gov] hair, dystrophic nails, and primeval splashes of intracranial calcification.[doi.org]

    Missing: Absent Pulp Chambers
  • Opitz-Kaveggia Syndrome

    There were, however, some dysmorphic facial features such as sparse, thin, and fragile hair with an abnormal pigmentation starting high in the frontal area.[kundoc.com] It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.[icd10data.com] The clinical phenotype of NCBRS highly overlaps with that of CSS and is characterized by facial dysmorphisms, sparse hair, short stature, microcephaly, and intellectual disability[karger.com]

    Missing: Absent Pulp Chambers
  • Taurodontia Absent Teeth Sparse Hair

    Treatment - Taurodontia absent teeth sparse hair Not supplied. Resources - Taurodontia absent teeth sparse hair Not supplied.[checkorphan.org] neck Abnormality of the pinna Hip dislocation Low-set ears Limb undergrowth Knee flexion contracture Short long bone Elbow flexion contracture Heterotopia Short thumb Pachygyria[mendelian.co] Radiographs show the extent of the invagination chamber. Enamel, which may be extremely thin or even absent, can be seen lining this chamber.[pocketdentistry.com]

  • Rothmund Thomson Syndrome

    It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[ncbi.nlm.nih.gov] General external examination was remarkable for short stature, telecanthus, a saddle nose, and hypodontia.[healio.com] The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective[ncbi.nlm.nih.gov]

    Missing: Absent Pulp Chambers
  • Legius Syndrome

    The hair is curly, thin, woolly and frail, and eyebrows and lashes are sparse, or missing.[socialstyrelsen.se] neck Excess skin on back of neck Wideset eyes Downslanting palpebral fissures Short, broad nose with flat tip Depressed nasal root Low-set ears that point toward the back[forgottendiseases.org] The hair of the head has the characteristics of loose anagen hair syndrome, which is easily pluckable, sparse, thin, slow-growing and generally silver-blond.[rasopathiesnet.org]

    Missing: Absent Pulp Chambers

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