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11 Possible Causes for Anterior Fontanelle Closure Delayed, 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] 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] Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Mitral regurgitation 0001653 Prominent supraorbital ridges Prominent brow 0000336 Rectal prolapse 0002035 Single[rarediseases.info.nih.gov]

  • 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]

  • 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] anterior fontanelle closure), hypoplastic mandible [Figure 1], lax skin over abdomen and knees, short phalanges.[ijpd.in] Lateral cephalogram revealed non-closure of sutures due delayed ossification of anterior fontanel, small wormian bones and enlargement of occiput was also obvious.[amhsr.org]

  • 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] 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

    transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] […] stomach emptying resulting in vomiting or frequent spitting up slow movement of the small intestine &/or large intestine (constipation) late closure of the anterior fontanel[magicfoundation.org] 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] closure of the anterior fontanelle Scarring White forelock Hypoplasia of penis Large forehead Thoracic dysplasia Renal hypoplasia Renal agenesis Corneal opacity Fibular aplasia[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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[quizlet.com] CNS myelination Dilation of lateral ventricles Delayed closure of the anterior fontanelle Lower limb asymmetry Optic nerve coloboma Abnormality of the neck Short 5th finger[mendelian.co] (abnormal hair density and length) Hirsutisme dorsal (hairy back) Synophrys (abundant hair between the eyebrows) Congenital dislocations/Skeletal BOS Posture [1] Scoliosis[bohring-opitz.org]

  • Eyebrow Duplication - Syndactyly Syndrome

    transverse palmar crease Brachydactyly Nevus Cataract Preauricular skin furrow Torticollis Prominent scrotal raphe Prominent umbilicus Downturned corners of mouth Alacrima[mendelian.co] closure of larger anterior fontanelle, mental retardation, cardiac septal defect, long face, low-set ears, long nose with broad nasal bridge, bushy eyebrows, mild ptosis[chr7.org] , microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis, and undescended testes. [2] Current literature[faoj.org]

  • Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

    A single transverse palmar crease and a 2-cm dorso-lumbar hairy patch were noted.[nature.com] closure of the cranial sutures, hypo plastic or aplastic clavicles, multiple dental abnormalities, large anterior fontanel, mid face hypoplasia, brachydactyly, hearing loss[quizlet.com] […] that meet in the middle (synophrys), downturned mouth, high arched palate, hypertrichosis, long eyelashes, short limbs Dubowitz syndrome Unknown; suspected autosomal recessive[aafp.org]

  • X-Linked Syndromic Mental Retardation Type 12

    Clinical features of the disorder include short stature, smallness of the head, obliquely slanted eyes, a flattened face, wide hands with a single transverse palmar crease[britannica.com] closure of the anterior fontanelle Overlapping fingers Abnormal fundus fluorescein angiography Clonus Febrile seizures Heterogeneous Distal muscle weakness Focal seizures[mendelian.co] Fasciculations Highly arched eyebrow Hemiplegia Thick eyebrow Cortical gyral simplification Abdominal obesity Small earlobe Abnormality of earlobe Distal lower limb amyotrophy[mendelian.co]