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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[] Involvement of the head and neck can present as thickened calvarium, small sinuses paranasales, flat occiput, delayed suture closure with large anterior fontanelle, prominent[] Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Mitral regurgitation 0001653 Prominent supraorbital ridges Prominent brow 0000336 Rectal prolapse 0002035 Single[]

  • Opitz-Kaveggia Syndrome

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

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

  • Hypertrichotic Osteochondrodysplasia

    transverse palmar crease Tics Hernia Polyhydramnios Autosomal recessive inheritance Inguinal hernia Protruding ear Thin vermilion border High, narrow palate Delayed eruption[] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[] 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,[]

  • SHORT Syndrome

    transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[] […] 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[] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[]

  • 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[] closure of the anterior fontanelle Scarring White forelock Hypoplasia of penis Large forehead Thoracic dysplasia Renal hypoplasia Renal agenesis Corneal opacity Fibular aplasia[] 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[]

  • 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[] 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[] (abnormal hair density and length) Hirsutisme dorsal (hairy back) Synophrys (abundant hair between the eyebrows) Congenital dislocations/Skeletal BOS Posture [1] Scoliosis[]

  • Eyebrow Duplication - Syndactyly Syndrome

    transverse palmar crease Brachydactyly Nevus Cataract Preauricular skin furrow Torticollis Prominent scrotal raphe Prominent umbilicus Downturned corners of mouth Alacrima[] 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[] , microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis, and undescended testes. [2] Current literature[]

  • Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

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

  • 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[] closure of the anterior fontanelle Overlapping fingers Abnormal fundus fluorescein angiography Clonus Febrile seizures Heterogeneous Distal muscle weakness Focal seizures[] Fasciculations Highly arched eyebrow Hemiplegia Thick eyebrow Cortical gyral simplification Abdominal obesity Small earlobe Abnormality of earlobe Distal lower limb amyotrophy[]