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Seckel Syndrome Type 2

SCKL2


Presentation

  • Moderate to severe mental retardation may also be present at birth (congenital) but may not become apparent until an affected child is older.[rarediseases.org]
  • I will detail the clinical presentation of this disorder; contrasting it to the other overlapping MPDs, and describe current models underlying the molecular pathogenesis of the associated genetic defects, highlighting their inter-related and associated[oxfordmedicine.com]
  • Blood abnormalities with chromosome breakage may be present in less than 25% of individuals who have Seckel syndrome.[resourcerepository.org]
  • Clinical analysis of Seckel cases with PCNT mutations showed that they all presented with minor skeletal changes and clinical features compatible with a MOPDII diagnosis.[dnatesting.uchicago.edu]
  • Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum agenesis, and one bilateral opercular macrogyria).[journals.sagepub.com]
Short Stature
  • Growth delays continue after birth (postnatal), resulting in short stature (dwarfism).[rarediseases.org]
  • stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of dental enamel Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ] 0000682 Absent earlobe Earlobe, absent Lobeless ears[rarediseases.info.nih.gov]
  • Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head ( microcephaly ), receding forehead, large eyes, low ears, prominent beaklike protrusion of the nose, and smallish chin.[medicinenet.com]
  • A homozygous nonsense mutation was identified in CEP63 in a consanguineous family of Pakistani descent with three members with primary microcephaly and proportionate short stature, clinically consistent with mild Seckel syndrome.[dnatesting.uchicago.edu]
  • stature syndrome SHOX Short stature, microcephaly, and endocrine dysfunction XRCC4 Short stature, optic nerve atrophy, and Pelger-Huet anomaly NBAS SHORT syndrome PIK3R1 Short-rib thoracic dysplasia type 2 with or without polydactyly IFT80 Short-rib[centogene.com]
Disability
  • 0100543 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Intellectual disability[rarediseases.info.nih.gov]
  • Common features include a cleft in the lip or palate, abnormal facial features, limb or skeletal abnormalities, intellectual disability and delayed growth and development.[centogene.com]
High Pitched Voice
  • pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed[rarediseases.info.nih.gov]
Heart Murmur
  • murmur Heart murmurs 0030148 High palate Elevated palate Increased palatal height [ more ] 0000218 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hyperactivity More active than typical 0000752 Hypoplasia of dental enamel Underdeveloped[rarediseases.info.nih.gov]
Small Head
  • Inside the small head, unfortunately, there is a very small brain. This usually means developmental delay and, later, mental retardation. About half of Seckel children have IQ below 50.[medicinenet.com]
  • head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Mild global developmental delay 0011342 Narrow face Decreased breadth of face Decreased width of face [ more ] 0000275 Prematurely aged appearance[rarediseases.info.nih.gov]
  • Other symptoms and physical features associated with Seckel syndrome include an abnormally small head (microcephaly); varying degrees of mental retardation; and/or unusual characteristic facial features including "beak-like" protrusion of the nose.[rarediseases.org]
Skeletal Dysplasia
  • Seckel syndrome panel ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP Skeletal dysplasia ciliopathy panel DYNC2H1, EVC, EVC2, IFT43, IFT80,... Skeletal dysplasia extended panel ALPL, ARSE, COL10A1, COL11A1, COL11A2,...[centogene.com]
Macrocephaly
  • 1 PAFAH1B1 Lissencephaly type 2 (Norman-Roberts type) RELN Lissencephaly type 3 TUBA1A Lissencephaly type 5 LAMB1 Lissencephaly, X-linked type 1 DCX Lissencephaly, X-linked type 2 ARX Lujan-Fryns syndrome MED12 Lymphedema-distichiasis syndrome FOXC2 Macrocephaly[centogene.com]
Cafe-Au-Lait Spots
  • […] dental arches [ more ] 0000689 Dislocated radial head 0003083 Elbow flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov]
Beaked Nose
  • nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Intellectual disability Mental deficiency Mental[rarediseases.info.nih.gov]
Cryptorchidism
  • Defects of bones in the arms and legs, dislocations of the elbow and hip, and inability to straighten the knees are all common as is (in boys) failure of the testes to descend into the scrotum (cryptorchidism).[medicinenet.com]
  • […] cerebellum [ more ] 0001321 Cerebellar vermis hypoplasia 0001320 Cleft palate Cleft roof of mouth 0000175 Clitoral hypertrophy Enlarged clitoris 0008665 Cone-shaped epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Cryptorchidism[rarediseases.info.nih.gov]
  • In some cases, males with Seckel syndrome may exhibit failure of the testes to descend normally into the scrotum (cryptorchidism) and/or affected females may have an abnormally enlarged clitoris (clitoromegaly).[rarediseases.org]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[resourcerepository.org]
  • An accurate and early syndromic diagnosis of congenital malformations is of vital importance, as late diagnosis can result in a delay in intervention and treatment of accompanying anomalies such as congenital heart defects or endocrine disorders.[centogene.com]

Epidemiology

  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution

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