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30 Possible Causes for Delayed Closure of Fontanelles, Hirsutism, Partial Syndactyly of Fingers and Toes

  • Hypertelorism

    Limb manifestations consist of splitting of nails (40%), broad great toes, partial syndactyly of fingers and toes, hy-perextensible joints, short 5th fingers, clinodactyly[] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[] , delayed closure - see also Fistula Diastasis Dilatation fontanel 756.0 Disease, diseased - see also Syndrome Crouzon's (craniofacial dysostosis) 756.0 Friedreich's Distortion[]

  • Cornelia De Lange Syndrome

    […] clinodactyly (curved 5th finger) Abnormal palmar crease Radial head dislocation/abnormal elbow extension Short 1st metacarpal/proximally placed thumb Bunion Partial 2,3 syndactyly[] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[] There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism.[]

  • Saethre-Chotzen Syndrome

    Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[] closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.[] […] fitting the Gorlin-Chaudhry-Moss syndrome, such as hypoplasia of the labia majora, hypoplasia of the distal phalanges of fingers and toes and conductive hearing loss, but hypertrichosis[]

  • Trisomy 8q

    Less commonly, partial webbing (syndactyly) of certain fingers and toes and dislocation of the hips at birth have been noted.[] […] and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis[] No hirsutism or acne was noted. No thyromegaly, no organomegaly, and no cardiac murmurs were noted. She was nonverbal, however was co-operative with the examination.[]

  • Lenz-Majewski Syndrome

    In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent.[] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[] […] hyperostosis Severe postnatal growth retardation Short digit Prominent scalp veins Feeding difficulties in infancy Hyperlordosis Decreased body weight Death in infancy Generalized hirsutism[]

  • Apert Syndrome

    Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded.[] Craniosynostosis can lead to acrobrachycephaly or turribrachycephaly with delayed closure of fontanels and a possible impact on brain growth and neurological development.[] He is happy, healthy, and hirsute (come on – give me the alliteration, right?).[]

  • Pelviscapular Dysplasia

    […] of the 3rd and 4th Trisomy 17p11.2 Branchio-Oto-Renal Duane fingers and bilateral partial hydrocephalus contiguous gene syndactyly of 2nd and 3rd toes syndrome Myoclonic[] Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[] […] toe 0012385 Cleft palate Cleft roof of mouth 0000175 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Dislocated radial head 0003083 Facial hirsutism[]

  • FGFR2-Related Bent Bone Dysplasia

    Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits.[] closure of the fontanel, cranial defects, and deafness; anal anomalies; genitourinary malformations; skin eruption) syndrome Yunis-Varon dysplasia Parietal foramina Craniosynostosis[] Syndactyly of the fingers and toes may CC be total (mitten hands and sock feet) or partial affecting the CC second, third, and fourth digits.[]

  • Craniosynostosis

    Some have partial syndactyly between the first and second toes and fingers. Children with this syndrome usually have normal intelligence. Saethre-Chotzen syndrome .[] Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal[] Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and cardiomegaly.[]

  • Micrognathism

    […] soft tissue syndactyly of the fingers and toes involving interdigital spaces 2 to 4, and bilateral talipes equinovarus.[] Hypertrichosis The general aim - to use syndromological analysis in clinical practice for determining genetical disorders.[] Symptoms INHERITANCE: Autosomal recessive GROWTH: [Height]; Short stature HEAD AND NECK: [Head]; Large anterior fontanel; Delayed closure anterior fontanel; [Face]; Micrognathia[]

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