Pilotto syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr: 2894
OMIM Id:
ICD-10:
UMLs: C2931484
MeSH: C537400
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
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:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
2
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
3
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
4
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
5
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
6
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
7
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
8
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
9
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
10
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
11
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
12
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
13
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
14
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
15
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
16
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
17
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
18
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
19
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
20
 (HPO:0040075) Hypopituitarism Frequent [Orphanet] 32 / 7739
21
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: