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Seckel syndrome
6 OMIM references -
6 associated genes
104 connected diseases
24 signs/symptoms
Disease Type of connection
Autosomal recessive primary microcephaly
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Jawad syndrome
Microcephalic osteodysplastic primordial dwarfism type 2
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Familial pancreatic carcinoma
Hereditary nonpolyposis colon cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
B-cell chronic lymphocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Constitutional mismatch repair deficiency syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Fanconi anemia
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Nijmegen breakage syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Precursor T-cell acute lymphoblastic leukemia
Li-Fraumeni syndrome
Giant cell glioblastoma
Gliosarcoma
Acute promyelocytic leukemia
Senior-Loken syndrome
Ataxia-telangiectasia-like disorder
Ear-patella-short stature syndrome
Omenn syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Adrenocortical carcinoma
Essential thrombocythemia
Papilloma of choroid plexus
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Catecholaminergic polymorphic ventricular tachycardia
Chronic myeloid leukemia
Werner syndrome
Xeroderma pigmentosum complementation group A
Xeroderma pigmentosum complementation group C
Gray platelet syndrome
Laron syndrome with immunodeficiency
Osteosarcoma
Papillary or follicular thyroid carcinoma
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Primary biliary cirrhosis
Melanoma of soft part
Multiple endocrine neoplasia type 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Familial capillary hemangioma
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Bloom syndrome
17q11 microdeletion syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Attenuated Chédiak-Higashi syndrome
CLOVE syndrome
Chédiak-Higashi syndrome
Cornelia de Lange syndrome
Cowden syndrome
Dedifferentiated liposarcoma
Dentatorubral pallidoluysian atrophy
Developmental delay with autism spectrum disorder and gait instability
Familial melanoma
Familial retinal arterial macroaneurysm
Hemimegalencephaly
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
LEOPARD syndrome
LIG4 syndrome
Macrodactyly of fingers, unilateral
Mandibular hypoplasia-deafness-progeroid syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Nijmegen breakage syndrome-like disorder
Noonan syndrome
Pancytopenia due to IKZF1 mutations
Pilocytic astrocytoma
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Well-differentiated liposarcoma
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Young adult-onset Parkinsonism
Romano-Ward syndrome
Aicardi-Goutières syndrome
Cerebroretinal vasculopathy
Chilblain lupus
HERNS syndrome
Hereditary vascular retinopathy
Premature chromosome condensation with microcephaly and intellectual deficit
Severe combined immunodeficiency due to DCLRE1C deficiency
Hereditary sensory and autonomic neuropathy type 2
Pseudohypoaldosteronism type 2C
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
1 MeSH reference: C537533
Very frequent
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Beaked nose
- Clinodactyly of fifth finger
- Craniostenosis / craniosynostosis / sutural synostosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Premature ageing
- Short stature / dwarfism / nanism
- Small / hypoplastic / adherent / absent ear lobe
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Frequent
- Anodontia / oligodontia / hypodontia
- Cone epiphyses / epiphysis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Enamel anomaly
- Glaucoma
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Occasional
- Scoliosis