IllnessWoolly hair syndrome, isolated; differential diagnosis

Summary

Short information

Five curated single gene sequence analyses according to the clinical suspicion on isolated Woolly hair syndrome [+ 6 syndromic disorders]

KP4320

Number of genes

7 Accredited laboratory test

Examined sequence length

7,0 kb (Core-/Core-canditate-Genes)
17,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
KRT25	1361	616646	NM_181534.4	AR
KRT71	1572	608245	NM_033448.3	AD
KRT74	1590	608248	NM_175053.4	AD
LIPH	1356	607365	NM_139248.3	AR
LPAR6	1035	609239	NM_005767.7	AR
DSP	8616	125647	NM_004415.4	AR
PKP1	2181	601975	NM_001005337.3	AR

Clinical Comment

Abnormal structure of the scalp hair, characterized by extreme kinkiness

Synonyms

Alias: Familial woolly hair syndrome
Alias: Hereditary woolly hair syndrome
Alias: Woolly or curly hair, non-syndromic
Allelic: Arrhythmogenic right ventricular dysplasia 12 (JUP)
Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
Allelic: Ectodermal dysplasia 7, hair/nail type (KRT74)
Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
Allelic: Keratosis palmoplantaris striata II (DSP)
Allelic: Nephrotic syndrome, type 16 (KANK2)
Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
Ectodermal dysplasia/skin fragility syndrome (PKP1)
Hypotrichosis 13 (KRT71)
Hypotrichosis 3 (KRT74)
Hypotrichosis 7 (LIPH)
Hypotrichosis 8 (LPAR6)
Inflammatory skin and bowel disease, neonatal, 1 (ADAM17)
Naxos disease: woolly hair, palmoplantar keratoderma, cardiac abnormalities (JUP)
Palmoplantar keratoderma + woolly hair (KANK2)
Skin fragility-woolly hair syndrome (DSP)
Trichohepatoenteric syndrome 2 SKIC2 syn. SKIV2L)
Woolly hair, AD (KRT74)
Woolly hair, AR 1, with or without hypotrichosis (LPAR6)
Woolly hair, AR 2, with/-out hypotrichosis (LIPH)
Woolly hair, AR 3 (KRT25)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined