IllnessHartsfield-Syndrom, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Hartsfield syndrome comprising altogether 22 curated genes according to the clinical signs

HP1775

Number of loci

Loci type	Count
Gen	20

Accredited laboratory test

Examined sequence length

4,6 kb (Core-/Core-canditate-Genes)
77,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FGFR1	2469	136350	NM_023110.3	AD
TP63	2043	603273	NM_003722.5	AD
ANOS1	2043	300836	NM_000216.4	XLR
CDON	3795	608707	NM_016952.5	AD
CENPF	9403	600236	NM_016343.4	AR
CNOT1	7401	604917	NM_001265612.2	AD
DHCR7	1428	602858	NM_001360.3	AR
DISP1	4575	607502	NM_032890.5	AD
FGF8	735	600483	NM_033163.5	AD
GLI2	4761	165230	NM_005270.5	AD
KMT2D	16614	602113	NM_003482.4	AD
PTCH1	4344	601309	NM_000264.5	AD
RAD21	1896	606462	NM_006265.3	AD, AR
SHH	1389	600725	NM_000193.4	AD
SIX3	999	603714	NM_005413.4	AD
SMC1A	3702	300040	NM_006306.4	XL
SMC3	3654	606062	NM_005445.4	AD
STAG2	3807	300826	NM_001042749.2	XL
TGIF1	819	602630	NM_173208.3	AD
ZIC2	1599	603073	NM_007129.5	AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_HP1775

Synonyms

Alias: FGFR1-related Hartsfield syndrome
Alias: Hartsfield-Bixler-Demyer syndrome
Alias: Holoprosencephaly split hand/foot syndrome
Alias: Holoprosencephaly, ectrodactyly + bilateral cleft lip/palate
Alias: Holoprosencephaly, hypertelorism + ectrodactyly syndrome
Alias: Holoprosenzephalie-Ektrodaktylie-Lippen-Kiefer-Gaumenspalte-Syndrom
Allelic: ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
Allelic: Hay-Wells syndrome [Ankyloblepharon-ectodermal defects-cleft lip/palate] (TP63)
Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
Allelic: Jackson-Weiss syndrome (FGFR1)
Allelic: Limb-mammary syndrome (TP63)
Allelic: Microphthalmia with coloboma 5 (SHH)
Allelic: Mullegama-Klein-Martinez syndrome (STAG2)
Allelic: Osteoglophonic dysplasia (FGFR1)
Allelic: Pfeiffer syndrome (FGFR1)
Allelic: Rapp-Hodgkin syndrome [anhidrotic ectodermal dysplasia, cleft lip/palate] (TP63)
Allelic: Schizencephaly (SHH, SIX3)
Allelic: Split-hand/foot malformation 4 (TP63)
Allelic: Trigonocephaly 1 (FGFR1)
Cornelia de Lange syndrome 2 (SMC1A)
Cornelia de Lange syndrome 4 (RAD21)
Culler-Jones syndrome (GLI2)
Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (TP63)
Genitourinary and/or/brain malformation syndrome (PPP1R12A)
Hartsfield syndrome (FGFR1)
Holoprosencephaly 10 (DISP1)
Holoprosencephaly 11 (CDON)
Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
Holoprosencephaly 13, XL (STAG2)
Holoprosencephaly 2 (SIX3)
Holoprosencephaly 3 (SHH)
Holoprosencephaly 4 (TGIF1)
Holoprosencephaly 5 (ZIC2)
Holoprosencephaly 9 (GLI2)
Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
Kabuki syndrome 1 (KMT2D)
Microcephaly 7, primary, AR (STIL)
Mungan syndrome (RAD21)
Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
Orofacial cleft 8 (TP63)
Single median maxillary central incisor (SHH)
Smith-Lemli-Opitz syndrome (DHCR7)
Stromme syndrome (CENPF)
Vissers-Bodmer syndrome (CNOT1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined