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28 Possible Causes for Cognitive Developmental Delay, Hypertrichosis of Eyebrows, 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] Patients exhibit growth retardation, psychomotor developmental delay and cognitive disability.[genedx.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    delay, language impairment, and cognitive impairment hypotonia, poor feeding and failure to thrive in infancy, oral-pharyngeal dysphagia, obstructive and central sleep apnea[mdpi.com] 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]

  • 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

    transverse palmar crease Delayed eruption of teeth Spastic paraplegia EEG abnormality Omphalocele Cerebral cortical atrophy Upslanted palpebral fissure Polyhydramnios Abnormality[mendelian.co] delay of the reported patients.[emedicine.medscape.com] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Coffin-Siris Syndrome 2

    transverse palmar creases 0007598 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Cleft palate Cleft roof of mouth 0000175 Congenital diaphragmatic[rarediseases.info.nih.gov] Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia.[ncbi.nlm.nih.gov] Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation.[ncbi.nlm.nih.gov]

  • Verheij Syndrome

    transverse palmar crease Highly arched eyebrow Depressed nasal ridge Hirsutism Wide intermamillary distance Dental crowding Tented upper lip vermilion Posteriorly rotated[mendelian.co] Comparison of our patients with the six previously published for whom data are available ( Table 1 ) suggests that short stature, relative microcephaly and developmental/cognitive[nature.com] Visage in profile demonstrates absence of nasofrontal angle, eyebrow hypertrichosis, upturned nasal tip, and shortened upper lip with a pronounced cupid's bow.[emedicine.medscape.com]

  • Autosomal Dominant Prognathism

    transverse palmar crease Short neck Sparse hair Dry skin Nevus High forehead Dolichocephaly Hip dislocation Coloboma Prominent nasal bridge Hypoplastic fingernail Nystagmus[mendelian.co] Most patients have developmental delays, speech and motor deficits, cognitive impairments and behavioral abnormalities.[disorders.eyes.arizona.edu] […] congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows[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] To identify most (if not all) conditions with ID, we searched for entries with either “mental retardation” or “developmental delay”, “intellectual disability”, and “cognitive[f1000research.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • 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]

  • 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] Major findings are fifth digit nail and distal phalanx hypoplasia/aplasia, developmental or cognitive delay and facial features.[annalspc.com] […] 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]