Ackerman syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MOLAR ROOTS, PYRAMIDAL, WITH JUVENILE GLAUCOMA AND UNUSUAL UPPER LIP
GLAUCOMA, JUVENILE, WITH UNUSUAL UPPER LIP AND DENTAL ROOTS
Pyramidal molar - glaucoma - upper abnormal lip
Number of Symptoms 20
OrphanetNr: 2561
OMIM Id: 200970
ICD-10: K00.2
UMLs: C1860167
MeSH: C538170
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
2
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
3
 (HPO:0000679) Taurodontia Very frequent [Orphanet] 27 / 7739
4
 (HPO:0000289) Broad philtrum 11 / 7739
5
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
6
 (HPO:0002002) Deep philtrum Very frequent [Orphanet] 42 / 7739
7
 (HPO:0010800) Absent cupid's bow 2 / 7739
8
 (HPO:0002263) Exaggerated cupid's bow Very frequent [Orphanet] 15 / 7739
9
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
10
 (HPO:0000557) Buphthalmos 16 / 7739
11
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
12
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
13
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
14
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
15
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
16
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
17
 (OMIM) Molar roots pyramidal 1 / 7739
18
 (OMIM) Philtrum thick and wide 1 / 7739
19
 (OMIM) Full upper lip 2 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: