The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. [thejns.org]

Acronym SCKL2 Synonyms Bird-headed dwarfism 2 Microcephalic primordial dwarfism 2 Seckel-type dwarfism 2 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only [uniprot.org]

Blood abnormalities with chromosome breakage may be present in less than 25% of individuals who have Seckel syndrome. [globalgenes.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]

The objective is to present two unrelated patients with a 10-year-old male and female patients with Meier Gorlin syndrome type 1, the latter being the second report in the Mexican population. [go.gale.com]

• Disability

  The onset is prenatal and continues postnatally causing severe microcephaly, a bird-like face, dwarfism, and severe intellectual disability.[1][2] Facial features of Seckel Syndrome Prevalence[edit | edit source] Seckel Syndrome is a rare genetic disorder [physio-pedia.com]

  ICD-9: 759.89 ICD-10: Q87.1 PROGRESSION Developmental delays and intellectual disability tend to be severe. [secure.ssa.gov]

  Some features of Seckel syndrome are a small head (microcephaly) and intellectual disability. Possible facial features are a sloping forehead and “beak-like” nose. [rarediseases.org]

  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

  Affiliated tissues include heart, cerebellum and kidney, and related phenotypes are ectopic kidney and high pitched voice Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11. [malacards.org]

  High pitched voice Growth abnormality Growth delay Short stature Small for gestational age IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading [ncbi.nlm.nih.gov]

  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

  [from OMIM] Show allHide all Abnormality of head or neck Microdontia Microglossia Narrow forehead Prominent nose Abnormality of limbs Clinodactyly of the 5th finger Abnormality of the cardiovascular system Heart murmur Abnormality of the eye Microphthalmia [ncbi.nlm.nih.gov]

  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]

• Joint Dislocation

  dislocations, GPAPP type IMPAD1 Chondrodysplasia, Blomstrand type PTH1R Choroideremia CHM Chrondrodysplasia, acromesomelic, with genital anomalies BMPR1B Chudley-McCullough syndrome GPSM2 Cleft palate, cardiac defects, and mental retardation MEIS2 Club [centogene.com]

• Decrease in Height

  […] circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Mild global developmental delay 0011342 Narrow face Decreased [rarediseases.info.nih.gov]

• Cafe-Au-Lait Spots

  […] nose Abnormality of limbs Clinodactyly of the 5th finger Abnormality of the cardiovascular system Heart murmur Abnormality of the eye Microphthalmia Abnormality of the genitourinary system Ectopic kidney Hypospadias Abnormality of the integument Few cafe-au-lait [ncbi.nlm.nih.gov]

  […] 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]

• Hirsutism

  In addition, affected children may have increased body hair (hirsutism). Another possible feature is a single, deep crease across the palms of the hands (single palmar crease). [rarediseases.org]

• Beaked Nose

  Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. [thejns.org]

  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]

  Males with Seckel syndrome may have testes that do not lower properly (cryptorchidism). Affected females may have a large clitoris (clitoromegaly). In addition, affected children may have increased body hair (hirsutism). [rarediseases.org]

• Ataxia

  Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (ATR) gene Seckel syndrome 2: RB binding protein 8 (RBBP8) gene Seckel syndrome 4: centromere protein J (CENPJ) gene Seckel syndrome 5: centrosomal protein 152 (CEP152) gene Seckel syndrome [physio-pedia.com]

  “A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.” (Nature Genetics) 33 (4). 12. Regen, A, LP Nelson, and SB Woo. 2010. [escipub.com]

  The types and gene names are: · Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (ATR) gene · Seckel syndrome 2: RB binding protein 8 (RBBP8) gene · Seckel syndrome 4: centromere protein J (CENPJ) gene · Seckel syndrome 5: centrosomal [rarediseases.org]

  A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome. Nature Genetics 33: 497–501. [preventiongenetics.com]

• Hyperactivity

  Most children with Seckel syndrome are "friendly and pleasant" but "often hyperkinetic (hyperactive) and easily distracted." This disease is genetic. It is inherited in an autosomal recessive manner. [medicinenet.com]

  Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148 High palate Elevated palate Increased palatal height [ more ] 0000218 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hyperactivity [rarediseases.info.nih.gov]

The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. [thejns.org]

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]

TREATMENT Treatment for SCKL is symptom specific. Affected school age children may benefit from early intervention programs and special education. [secure.ssa.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Discussion and conclusion: Recognizing and giving multidisciplinary follow-up will help to know the etiology of the disease, as well as its evolution, management and genetic counseling. [go.gale.com]

Etiology[edit | edit source] Seckel Syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Listed below are multiple variations of Seckel Syndrome caused by gene mutations on multiple chromosomes. [physio-pedia.com]

Multicentre study, aiming to determine morphological and epidemiological parameters and identify new symptoms in French patients with SCKL or MOPDII. [clinicaltrials.gov]

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]