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

Standard Therapies Treatment Medical treatment for Seckel syndrome is based on the specific problems that are present in the affected child. [rarediseases.org]

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]

Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. [hal.archives-ouvertes.fr]

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

• High Pitched Voice

  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]

  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]

  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]

• 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]

• 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]

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]