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Hamamy syndrome(HMMS)

MedGen UID:
370148
Concept ID:
C1970027
Disease or Syndrome
Synonyms: HMMS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): IRX5 (16q12.2)
OMIM®: 611174
Orphanet: ORPHA314555

Clinical features

Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Hypoparathyroidism
MedGen UID:
6985
Concept ID:
C0020626
Disease or Syndrome
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the digit from proximal to distal.
Short 2nd finger
MedGen UID:
396302
Concept ID:
C1862142
Finding
Hypoplasia of the second finger, also known as the index finger.
Long toe
MedGen UID:
461963
Concept ID:
C3150613
Finding
Digits that appear disproportionately long compared to the foot.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the digit from proximal to distal.
Short 2nd finger
MedGen UID:
396302
Concept ID:
C1862142
Finding
Hypoplasia of the second finger, also known as the index finger.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Long toe
MedGen UID:
461963
Concept ID:
C3150613
Finding
Digits that appear disproportionately long compared to the foot.
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Congenital macrostomia
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Nasal bridge wide
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Low posterior hairline
MedGen UID:
383755
Concept ID:
C1855728
Finding
Hair on the neck extends more inferiorly than usual.
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHamamy syndrome
Follow this link to review classifications for Hamamy syndrome in Orphanet.

Recent clinical studies

Etiology

Khawaja NM, Taher BM, Barham ME, Naser AA, Hadidy AM, Ahmad AT, Hamamy HA, Yaghi NA, Ajlouni KM
Endocr Pract 2006 Jan-Feb;12(1):29-34. doi: 10.4158/EP.12.1.29. PMID: 16524860
Hamamy HA, Dahoun S
Eur J Obstet Gynecol Reprod Biol 2004 Sep 10;116(1):58-62. doi: 10.1016/j.ejogrb.2003.12.029. PMID: 15294369

Diagnosis

Bustanji H, Sahar B, Huebner A, Ajlouni K, Landgraf D, Hamamy H, Koehler K
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):933-6. doi: 10.1515/jpem-2014-0401. PMID: 25781531
Masri A, Bakri FG, Al-Hussaini M, Al-Hadidy A, Hirzallah R, de Saint Basile G, Hamamy H
J Child Neurol 2008 Aug;23(8):964-7. Epub 2008 Apr 10 doi: 10.1177/0883073808315409. PMID: 18403584
Hamamy HA, Teebi AS, Oudjhane K, Shegem NN, Ajlouni KM
Am J Med Genet A 2007 Feb 1;143A(3):229-34. doi: 10.1002/ajmg.a.31594. PMID: 17230486
Hamamy H, Barham M, Alkhawaldeh AE, Cockburn D, Snowden H, Ajlouni K
Ann Saudi Med 2006 Nov-Dec;26(6):480-3. PMID: 17146208
Hamamy HA, Daas HA, Shegem NS, Al-Hadidy AM, Ajlouni K
Saudi Med J 2005 May;26(5):875-9. PMID: 15951889

Therapy

Khawaja NM, Taher BM, Barham ME, Naser AA, Hadidy AM, Ahmad AT, Hamamy HA, Yaghi NA, Ajlouni KM
Endocr Pract 2006 Jan-Feb;12(1):29-34. doi: 10.4158/EP.12.1.29. PMID: 16524860

Prognosis

Bustanji H, Sahar B, Huebner A, Ajlouni K, Landgraf D, Hamamy H, Koehler K
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):933-6. doi: 10.1515/jpem-2014-0401. PMID: 25781531
Makrythanasis P, Temtamy S, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE
Hum Mutat 2014 Aug;35(8):959-63. Epub 2014 Jun 28 doi: 10.1002/humu.22597. PMID: 24864036
Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F
Eur J Hum Genet 2011 May;19(5):525-33. Epub 2011 Feb 16 doi: 10.1038/ejhg.2010.253. PMID: 21326283Free PMC Article
Masri A, Bakri FG, Al-Hussaini M, Al-Hadidy A, Hirzallah R, de Saint Basile G, Hamamy H
J Child Neurol 2008 Aug;23(8):964-7. Epub 2008 Apr 10 doi: 10.1177/0883073808315409. PMID: 18403584
Khawaja NM, Taher BM, Barham ME, Naser AA, Hadidy AM, Ahmad AT, Hamamy HA, Yaghi NA, Ajlouni KM
Endocr Pract 2006 Jan-Feb;12(1):29-34. doi: 10.4158/EP.12.1.29. PMID: 16524860

Clinical prediction guides

Makrythanasis P, Temtamy S, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE
Hum Mutat 2014 Aug;35(8):959-63. Epub 2014 Jun 28 doi: 10.1002/humu.22597. PMID: 24864036

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