Hartsfield-Bixler-Demyer syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HRTFDS
HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
Holoprosencephaly - ectrodactyly - cleft lip palate
Number of Symptoms 45
OrphanetNr: 2117
OMIM Id: 615465
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0000601) Hypotelorism 83 / 7739
3
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
4
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
5
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
6
 (HPO:0003228) Hypernatremia 12 / 7739
7
 (HPO:0001319) Neonatal hypotonia 101 / 7739
8
 (HPO:0004408) Abnormality of the sense of smell Very frequent [Orphanet] 28 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
11
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
12
 (HPO:0004060) Trident hand Frequent [Orphanet] 13 / 7739
13
 (HPO:0001159) Syndactyly 140 / 7739
14
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
15
 (HPO:0100257) Ectrodactyly 27 / 7739
16
 (HPO:0005466) Hypoplasia of the frontal bone 3 / 7739
17
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] rare [HPO:skoehler] 132 / 7739
18
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
19
 (HPO:0002084) Encephalocele Very frequent [Orphanet] 70 / 7739
20
 (HPO:0000252) Microcephaly 832 / 7739
21
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
22
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
23
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
24
 (HPO:0000047) Hypospadias 250 / 7739
25
 (HPO:0000054) Micropenis 257 / 7739
26
 (HPO:0000028) Cryptorchidism 347 / 7739
27
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
28
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
29
 (HPO:0000175) Cleft palate 349 / 7739
30
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
31
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
32
 (HPO:0009932) Single naris Very frequent [Orphanet] 10 / 7739
33
 (HPO:0000445) Wide nose 190 / 7739
34
 (HPO:0000286) Epicanthus 371 / 7739
35
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
36
 (HPO:0008213) Gonadotropin deficiency 6 / 7739
37
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
38
 (HPO:0000369) Low-set ears 372 / 7739
39
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
40
 (HPO:0000873) Diabetes insipidus 34 / 7739
41
 (HPO:0012443) Abnormality of brain morphology Very frequent [Orphanet] 45 / 7739
42
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
43
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
44
 (HPO:0006870) Lobar holoprosencephaly 1 / 7739
45
 (OMIM) Vermian hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hartsfield syndrome classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur (Vilain et al., 2009). The disorder involves midline and limb field defects (Zechi-Ceide ...
Clinical Description OMIM Hartsfield et al. (1984) reported a male infant born with multiple congenital anomalies, including lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, who died at age 7 days. He also had hypertelorism, depressed nose, low-set and posteriorly rotated ears, and ...
Molecular genetics OMIM Simonis et al. (2013) performed exome sequencing in 4 of the unrelated male patients with Hartsfield syndrome previously reported by Vilain et al. (2009) and identified missense mutations in the FGFR1 gene (see, e.g., 136350.0030 and 136350.0031) in ...