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32 Possible Causes for Delayed Bone Age, Hypertrichosis of Eyebrows, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    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] Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired.[genedx.com] Involvement of the musculoskeletal system presents as short thorax, bifid sternum, pectus excavatum or carinatum, vertebral dysplasia, kyphosis, scoliosis, delayed bone age[accessanesthesiology.mhmedical.com]

  • 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] Additional observations include maternal pre-eclampsia (2/9), syndactyly (3/9), feeding or swallowing issues (3/9), delayed bone age (2/9) and scoliosis (2/9).[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]

  • Coffin-Siris Syndrome
  • Hypertrichotic Osteochondrodysplasia

    transverse palmar crease Tics Hernia Polyhydramnios Autosomal recessive inheritance Inguinal hernia Protruding ear Thin vermilion border High, narrow palate Delayed eruption[mendelian.co] bone age; [Skull]; Widened posterior fossa; Enlarged sella; [Spine]; Platyspondyly; Ovoid-shaped vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty[genome.jp] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net]

  • SHORT Syndrome

    transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.[ncbi.nlm.nih.gov] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com]

  • 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] Symptoms - Qazi Markouizos syndrome Some of the symptoms of Qazi Markouizos syndrome incude: * Chronic constipation * Severe psychomotor retardation * Seizures * Delayed bone[checkorphan.org] The coarse facial features and hypertrichosis of the eyebrows may not be present at birth but may develop after early infancy.[link.springer.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] Therefore, we propose that both of advanced bone age and delayed bone age are authentic phenotype of WDSTS caused by KMT2A variation.[ojrd.biomedcentral.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] bone age,moderate to severe learning difficulties, global development delay, microcephaly, coarse facial features, including wide nose, wide mouth, and thick eyebrows and[globalgenes.org] 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]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    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] Skeletal surveys in both boys demonstrated only brachycephaly and delayed bone age (prior to treatment with growth hormone).[bmjopen.bmj.com] […] 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 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] Short stature, brachydactyly, delayed bone age, osteoporosis, and hypoplasia of the acetabulae and iliac alae are usually present. Birth weight is often low.[disorders.eyes.arizona.edu] bone age; and intellectual disability.[findzebra.com]

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