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]

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]

• 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]

• Malocclusion

  […] epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Dental crowding Crowded teeth Dental overcrowding Overcrowding of teeth [ more ] 0000678 Dental malocclusion [rarediseases.info.nih.gov]

• Heart Murmur

  [from OMIM] Show allHide all Abnormality of head or neck Microcephaly Microdontia Microglossia Micrognathia Narrow forehead Prominent nose Sloping forehead Abnormality of limbs Clinodactyly of the 5th finger Abnormality of the cardiovascular system Heart [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

  […] forehead 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 excessive body hair (hirsutism), and/or a single, deep crease across the palms of the hands (simian 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]

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]

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]

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]