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Moore-Federman syndrome

MedGen UID:
82709
•Concept ID:
C0265349
•
Congenital Abnormality
Synonyms: Dwarfism stiff joint ocular abnormalities; DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES
SNOMED CT: Moore-Federman syndrome (72913007); Familial dwarfism AND stiff joints (72913007)
 
Monarch Initiative: MONDO:0007480
OMIM®: 127200
Orphanet: ORPHA2569

Recent clinical studies

Diagnosis

Moore Federman syndrome: A rare cause of pseudoscleroderma.
Muhammed K, Nandakumar G
Indian J Dermatol Venereol Leprol 2007 Jul-Aug;73(4):257-9. doi: 10.4103/0378-6323.33638. PMID: 17675736
Acromicric dysplasia and geleophysic dysplasia: similarities and differences.
Hennekam RC, van Bever Y, Oorthuys JW
Eur J Pediatr 1996 Apr;155(4):311-4. doi: 10.1007/BF02002719. PMID: 8777926
Moore-Federman syndrome and acromicric dysplasia: are they the same entity?
Winter RM, Patton MA, Challener J, Mueller RF, Baraitser M
J Med Genet 1989 May;26(5):320-5. doi: 10.1136/jmg.26.5.320. PMID: 2732993Free PMC Article

Therapy

Reviving the Moore-Federman syndrome.
Fell JM, Stanhope R
J R Soc Med 1993 Jan;86(1):52-3. PMID: 8423583Free PMC Article

Clinical prediction guides

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.
Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P
Am J Med Genet 1992 Sep 1;44(1):48-51. doi: 10.1002/ajmg.1320440112. PMID: 1519650

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