MCID: HMM004
MIFTS: 25

Hamamy Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases, Neuronal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Hamamy Syndrome

MalaCards integrated aliases for Hamamy Syndrome:

Name: Hamamy Syndrome 57 59 75 29 13 6
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility 57 73
Hmms 57 75
Severe Hypertelorism with Midface Prominence Myopia Mental Retardation and Bone Fragility 75
Craniofacial Dysplasia-Osteopenia Syndrome 59
Syndrome, Hamamy 40

Characteristics:

Orphanet epidemiological data:

59
craniofacial dysplasia-osteopenia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hamamy syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hamamy Syndrome

UniProtKB/Swiss-Prot : 75 Hamamy syndrome: A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence.

MalaCards based summary : Hamamy Syndrome, also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility, is related to sleep apnea and influenza. An important gene associated with Hamamy Syndrome is IRX5 (Iroquois Homeobox 5). Affiliated tissues include bone and skin, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 611174

Related Diseases for Hamamy Syndrome

Diseases related to Hamamy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sleep apnea 9.9
2 influenza 9.9

Symptoms & Phenotypes for Hamamy Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss, sensorineural
ear anomalies
preauricular skin tags (in some patients)

Skeletal Pelvis:
hip dysplasia

Head And Neck Head:
brachycephaly
low posterior hair line
extra frontal hair whorl

Head And Neck Mouth:
wide mouth
high-arched palate
thin upper vermilion border

Head And Neck Nose:
broad nasal bridge
anteverted nostrils
absence or dysfunction of nasolacrimal structures
pointed nasal tip

Skin Nails Hair Hair:
low posterior hair line
extra frontal hair whorl

Skeletal:
generalized osteopenia

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)

Head And Neck Teeth:
malocclusion (in some patients)
loss of lamina dura
thin or hypoplastic enamel
worn-out teeth (in some patients)
hypodontia (in some patients)

Abdomen Gastrointestinal:
swallowing difficulties (in some patients)

Skeletal Feet:
long toes (in some patients)

Voice:
unclear speech

Genitourinary External Genitalia Male:
inguinal hernia
cryptorchidism
absent gonad activity

Head And Neck Face:
smooth philtrum
long philtrum
bulging midface (in some patients)
parotid gland dysfunction (in some patients)
micrognathia, mild (in some patients)

Endocrine Features:
hypoparathyroidism

Skeletal Hands:
long fingers
short index finger
syndactyly (in some patients)
tapering fingers (in some patients)
clinodactyly of fifth finger
more
Head And Neck Neck:
sloping shoulders
pterygium colli

Skeletal Skull:
craniosynostosis (in some patients)

Head And Neck Eyes:
laterally sparse eyebrows
severe hypertelorism
myopia, progressive severe

Cardiovascular Heart:
atrial septal defect (in some patients)
mitral regurgitation (in some patients)
intraventricular conduction delay
atrioventricular canal, total (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus, small (in some patients)

Skeletal Limbs:
long bone fractures

Neurologic Central Nervous System:
psychomotor retardation, moderate

Hematology:
anemia, microcytic hypochromic


Clinical features from OMIM:

611174

Human phenotypes related to Hamamy Syndrome:

32 (show all 37)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 pectus excavatum 32 occasional (7.5%) HP:0000767
4 high palate 32 HP:0000218
5 osteopenia 32 HP:0000938
6 dysphagia 32 occasional (7.5%) HP:0002015
7 developmental regression 32 HP:0002376
8 inguinal hernia 32 HP:0000023
9 dental malocclusion 32 occasional (7.5%) HP:0000689
10 hip dysplasia 32 HP:0001385
11 wide nasal bridge 32 HP:0000431
12 smooth philtrum 32 HP:0000319
13 sensorineural hearing impairment 32 HP:0000407
14 anteverted nares 32 HP:0000463
15 brachycephaly 32 HP:0000248
16 long philtrum 32 HP:0000343
17 micrognathia 32 occasional (7.5%) HP:0000347
18 cryptorchidism 32 HP:0000028
19 webbed neck 32 HP:0000465
20 low posterior hairline 32 HP:0002162
21 atrial septal defect 32 occasional (7.5%) HP:0001631
22 microcytic anemia 32 HP:0001935
23 hypoparathyroidism 32 HP:0000829
24 wide mouth 32 HP:0000154
25 mitral regurgitation 32 occasional (7.5%) HP:0001653
26 hypochromic anemia 32 HP:0001931
27 hypodontia 32 occasional (7.5%) HP:0000668
28 down-sloping shoulders 32 HP:0200021
29 craniosynostosis 32 occasional (7.5%) HP:0001363
30 preauricular skin tag 32 occasional (7.5%) HP:0000384
31 sparse lateral eyebrow 32 HP:0005338
32 moderate global developmental delay 32 HP:0011343
33 tapered finger 32 occasional (7.5%) HP:0001182
34 short 2nd finger 32 HP:0009536
35 syndactyly 32 occasional (7.5%) HP:0001159
36 long toe 32 occasional (7.5%) HP:0010511
37 high myopia 32 HP:0011003

Drugs & Therapeutics for Hamamy Syndrome

Search Clinical Trials , NIH Clinical Center for Hamamy Syndrome

Genetic Tests for Hamamy Syndrome

Genetic tests related to Hamamy Syndrome:

# Genetic test Affiliating Genes
1 Hamamy Syndrome 29 IRX5

Anatomical Context for Hamamy Syndrome

MalaCards organs/tissues related to Hamamy Syndrome:

41
Bone, Skin

Publications for Hamamy Syndrome

Variations for Hamamy Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hamamy Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 IRX5 p.Ala150Pro VAR_068483 rs387907198
2 IRX5 p.Asn166Lys VAR_068484 rs786200931

ClinVar genetic disease variations for Hamamy Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRX5 NM_005853.5(IRX5): c.498C> A (p.Asn166Lys) single nucleotide variant Pathogenic rs786200931 GRCh38 Chromosome 16, 54932746: 54932746
2 IRX5 NM_005853.5(IRX5): c.498C> A (p.Asn166Lys) single nucleotide variant Pathogenic rs786200931 GRCh37 Chromosome 16, 54966658: 54966658
3 IRX5 NM_005853.5(IRX5): c.448G> C (p.Ala150Pro) single nucleotide variant Pathogenic rs387907198 GRCh37 Chromosome 16, 54966608: 54966608
4 IRX5 NM_005853.5(IRX5): c.448G> C (p.Ala150Pro) single nucleotide variant Pathogenic rs387907198 GRCh38 Chromosome 16, 54932696: 54932696
5 IRX5 NM_005853.5(IRX5): c.240_242delCTC (p.Ser81del) deletion Uncertain significance rs1057518726 GRCh37 Chromosome 16, 54965350: 54965352
6 IRX5 NM_005853.5(IRX5): c.240_242delCTC (p.Ser81del) deletion Uncertain significance rs1057518726 GRCh38 Chromosome 16, 54931438: 54931440
7 IRX5 NM_005853.5(IRX5): c.1362_1368delTAAAGACinsGT (p.Lys455Serfs) indel Pathogenic rs1057518725 GRCh38 Chromosome 16, 54933783: 54933789
8 IRX5 NM_005853.5(IRX5): c.1362_1368delTAAAGACinsGT (p.Lys455Serfs) indel Pathogenic rs1057518725 GRCh37 Chromosome 16, 54967695: 54967701

Expression for Hamamy Syndrome

Search GEO for disease gene expression data for Hamamy Syndrome.

Pathways for Hamamy Syndrome

GO Terms for Hamamy Syndrome

Sources for Hamamy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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