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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessAdams-Oliver syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Adams-Oliver syndrome comprising 6 core candidate genes and altogether 19 curated genes according to the clinical signs

ID
AP9224
Number of genes
19 Accredited laboratory test
Examined sequence length
23,3 kb (Core-/Core-canditate-Genes)
76,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ARHGAP314335AD
DLL42058AD
DOCK66144AR
EOGT1584AR
NOTCH17668AD
RBPJ1503AD
BMS13849AD
CDAN13684AR
CDIN1918AR
COL18A14560AR
COL7A18835AD, AR
KCTD1774AD
KDM6A4206XLD
KMT2D16614AD
PORCN1386XLD
SOX181155AD
TFAP2A1296AD
TWIST2483AD
UBR15250XLD

Informations about the disease

Clinical Comment

Adams-Oliver syndrome presents with aplasia cutis congenita and limb malformations as well as additional symptoms. The areas of missing skin typically occur on the skull vertex with scars, in some cases the underlying bone is underdeveloped with absence of hair growth in the affected area. Limb abnormalities include abnormal nails, syndactyly, brachydactyly or oligodactyly. Other bones of the hands, feet or lower limbs may be malformed or missing. Affected infants may show cutis marmorata telangiectatica congenital, can develop life-threatening pulmonary hypertension or have heart or brain defects. In some cases, patients are developmentally delayed with learning problems. This syndrome follows autosomal dominant or recessive inheritance patterns. Mutations in the genes ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ allow to confirm the clinical diagnosis in little more than 50% of the cases.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK355754/

 

Synonyms
  • Alias: Absence defect of limbs, scalp + skull
  • Alias: Aplasia cutis congenita with terminal transverse limb defects
  • Alias: Congenital scalp defects with distal limb anomalies
  • Alias: Congenital scalp defects with distal limb reduction anomalies
  • Alias: Limb, scalp and skull defects
  • Allelic: Ablepharon-macrostomia syndrome (TWIST2)
  • Allelic: Aortic valve disease 1 (NOTCH1)
  • Allelic: Epidermolysis bullosa dystrophica inversa (COL7A1)
  • Allelic: Epidermolysis bullosa dystrophica, AR (COL7A1)
  • Allelic: Epidermolysis bullosa dystrophica, Bart type (COL7A1)
  • Allelic: Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
  • Allelic: Epidermolysis bullosa pruriginosa (COL7A1)
  • Allelic: Epidermolysis bullosa, pretibial (COL7A1)
  • Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
  • Allelic: Glaucoma, primary closed-angle (COL18A1)
  • Allelic: Toenail dystrophy, isolated (COL7A1)
  • Allelic: Transient bullous of the newborn (COL7A1)
  • Adams-Oliver syndrome 1 (ARHGAP31)
  • Adams-Oliver syndrome 2 (DOCK6)
  • Adams-Oliver syndrome 3 (RBPJ)
  • Adams-Oliver syndrome 4 (EOGT)
  • Adams-Oliver syndrome 5 (NOTCH1)
  • Adams-Oliver syndrome 6 (DLL4)
  • Aplasia cutis congenita, nonsyndromic (BMS1)
  • Barber-Say syndrome (TWIST2)
  • Branchiooculofacial syndrome (TFAP2A)
  • Dyserythropoietic anemia, congenital, type Ia (CDAN1)
  • Dyserythropoietic anemia, congenital, type Ib (CDIN1)
  • Epidermolysis bullosa dystrophica, AD (COL7A1)
  • Focal dermal hypoplasia (PORCN)
  • Hypotrichosis-lymphedema-telangiectasia syndrome (SOX18)
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (SOX18)
  • Johanson-Blizzard syndrome (UBR1)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Knobloch syndrome, type 1 (COL18A1)
  • Scalp-ear-nipple syndrome (KCTD1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined