Rosselli-Gulienetti syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr: 90339
OMIM Id: 225000
ICD-10:
UMLs: C0796139
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cleft lip/palate - ectodermal dysplasia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
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:0000535) Sparse and thin eyebrow 76 / 7739
2
 (HPO:0000288) Abnormality of the philtrum 54 / 7739
3
 (HPO:0000668) Hypodontia 81 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000691) Microdontia 104 / 7739
6
 (HPO:0000674) Anodontia 18 / 7739
7
 (HPO:0000653) Sparse eyelashes 58 / 7739
8
 (HPO:0000204) Cleft upper lip 193 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
11
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
12
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
13
 (HPO:0002296) Progressive hypotrichosis 2 / 7739
14
 (HPO:0000966) Hypohidrosis 41 / 7739
15
 (HPO:0002164) Nail dysplasia 82 / 7739
16
 (OMIM) Hypohidrosis may be present 1 / 7739
17
 (OMIM) Psychomotor retardation, variable 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (HPO:0040080) Anteverted ears 6 / 7739
20
 (OMIM) Onychodysplasia may be present 1 / 7739
21
 (OMIM) Anteverted ears 5 / 7739
22
 (OMIM) Sparse, abnormal hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rosselli and Gulienetti (1961) described 4 patients with anhidrosis, hypotrichosis, microdontia, dysplasia of nails, cleft lip and palate, deformity of the fingers and toes, and malformation in the genitourinary system. Popliteal and perineal pterygium was also described. Syndactyly ...