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21 Possible Causes for Hypertrichosis of Eyebrows, Short Attention Span, Single Transverse Palmar Crease

  • Rubinstein-Taybi Syndrome

    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] However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight.[ncbi.nlm.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]

  • Wiedemann-Steiner Syndrome

    transverse palmar crease Delayed eruption of teeth Spastic paraplegia EEG abnormality Omphalocele Cerebral cortical atrophy Upslanted palpebral fissure Polyhydramnios Abnormality[mendelian.co] attention span Self-mutilation Cerebral hypomyelination Inappropriate laughter Hypointensity of cerebral white matter on MRI Cleft palate Prominent metopic ridge Cryptorchidism[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]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    attention span, sensorineural deafness, constipation. * anomalies not in FGS and include anomalies, heart defects, hernias, cryptorchidism. * combination defects lethal during[factpub.org] Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited[ncbi.nlm.nih.gov] […] some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Global developmental delay Abnormal facial shape Delayed speech and language development Thick eyebrow[mendelian.co]

  • Autosomal Dominant Mental Retardation Type 21

    transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] They often are restless and hyperactive and have a short attention span. Their developmental milestones, especially speech development, are delayed.[emedicine.medscape.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • 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] Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span.[ghr.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]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    transverse palmar crease Abnormal heart morphology Pain Generalized hypertrichosis Epicanthus Generalized hirsutism Low anterior hairline Delayed eruption of teeth Cognitive[mendelian.co] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.com.br]

  • Qazi-Markouizos Syndrome

    transverse palmar crease Highly arched eyebrow Underdeveloped nasal alae Intrauterine growth retardation Long eyelashes Delayed puberty Talipes equinovarus Growth delay Congenital[mendelian.co] attention span Bulbar signs Hypertelorism Loss of speech Delusions Abnormality of visual evoked potentials Increased CSF protein Emotional lability Decreased nerve conduction[mendelian.co] The coarse facial features and hypertrichosis of the eyebrows may not be present at birth but may develop after early infancy.[link.springer.com]

  • BOD Syndrome

    transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[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] attention span Absence seizures Self-injurious behavior Infantile muscular hypotonia Cupped ear Language impairment Focal seizures with impairment of consciousness or awareness[mendelian.co]

  • SHORT Syndrome

    As well as learning disabilities, common behavioural features include short attention span, distractibility, impulsiveness, restlessness, over activity and sensory problems[fragilex.org.uk] 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

    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] attention span Descending aorta hypoplasia Need help with a diagnosis?[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]