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20 Possible Causes for Hypertrichosis of Eyebrows, Large Anterior Fontanels, Single Transverse Palmar Crease

  • Rubinstein-Taybi Syndrome

    anterior fontanelle (41%), microcephaly (35%), Small mouth, persistent fetal finger pads (31%), duplicated longitudinal bracketed epiphysis (kissing delta phalanx), syndactyly[faoj.org] transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Coffin-Lowry Syndrome

    A persistent large anterior fontanel beyond the age of two years may be another associated finding.[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] Involvement of the head and neck can present as thickened calvarium, small sinuses paranasales, flat occiput, delayed suture closure with large anterior fontanelle, prominent[accessanesthesiology.mhmedical.com]

  • Opitz-Kaveggia Syndrome

    Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] […] fullness, a wide mouth with full lips, and coarse facial features as well as fifth fingernail hypoplasia, absence of terminal phalanges, hypertrichosis, developmental delay[karger.com] […] umbilical artery, single transverse palmar creases, and hypotonia.[nature.com]

  • Wiedemann-Steiner Syndrome

    fontanel Large fontanelles Disproportionate tall stature Poor head control Hypoplasia of the brainstem Amenorrhea Bone marrow hypocellularity Tubular atrophy Beaking of vertebral[mendelian.co] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

  • Autosomal Dominant Prognathism

    Clinical features: Patients with Downs syndrome are characterised by flat face, a large anterior fontanel,open sutures,small slanting eyes with epicanthal folds,open mouth[slideshare.net] transverse palmar crease Short neck Sparse hair Dry skin Nevus High forehead Dolichocephaly Hip dislocation Coloboma Prominent nasal bridge Hypoplastic fingernail Nystagmus[mendelian.co] Macrocephaly - spastic paraplegia - dysmorphism is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior[findzebra.com]

  • Thanatophoric Dysplasia

    Physical findings: • Growth deficiency of limbs of less than 5%; • Platyspondyly of the vertebrae; • Large anterior fontanel; ICD-9: 756.4 TREATMENT Treatment measures of[secure.ssa.gov] transverse palmar crease Hydronephrosis Toe syndactyly Anal atresia Flexion contracture Upslanted palpebral fissure Short palpebral fissure Wide mouth Feeding difficulties[mendelian.co] anterior fontanel Cloverleaf-shaped skull due to premature closure of the cranial sutures Marked bilateral shortening of the limbs (micromelia) with redundant skin folds[disabled-world.com]

  • BOD Syndrome

    Large sternal ossification centers Need help with a diagnosis?[mendelian.co] […] and eyelash hypertrichosis, diffuse hirsutism and, most typically, hypoplastic to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes[cambridge.org] transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[mendelian.co]

  • Hypertrichotic Osteochondrodysplasia

    […] hands Aplasia/Hypoplasia of the cerebellum Schizophrenia Redundant skin Coarse hair Aplasia/Hypoplasia of the corpus callosum Cutis laxa Decreased body weight Wide anterior[mendelian.co] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Clinical examination showed a mentally alert, well-built girl with hypertrichosis, presenting with extremely bushy eyebrows with downy growth of hair on the cheeks, chin,[ijdr.in]

  • SHORT Syndrome

    Distinctive features in affected individuals in addition to those of CdLS include a large anterior fontanel, widely spaced eyes (also known as orbital hypertelorism) and happy[nature.com] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com]

  • Pfeiffer-Palm-Teller Syndrome

    fontanelle Scarring White forelock Hypoplasia of penis Large forehead Thoracic dysplasia Renal hypoplasia Renal agenesis Corneal opacity Fibular aplasia Otosclerosis Macroglossia[mendelian.co] transverse palmar crease Cafe-au-lait spot Otitis media Poor suck Recurrent otitis media Pulmonary arterial hypertension Dental crowding Depressivity Gait disturbance Ataxia[mendelian.co] High myopia Sparse scalp hair Wide nose Thin skin Sparse and thin eyebrow Bowing of the long bones Arthrogryposis multiplex congenita Elbow flexion contracture Accelerated[mendelian.co]

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