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Francois syndrome

MedGen UID:
98151
•Concept ID:
C0432288
•
Disease or Syndrome
Synonyms: Dermochondrocorneal dystrophy; Dermochondrocorneal dystrophy of François
SNOMED CT: Dermochondrocorneal dystrophy (254150007); Francois syndrome (254150007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009094
OMIM®: 221800
Orphanet: ORPHA79149

Definition

Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992). [from OMIM]

Clinical features

From HPO
Abnormality of the hand
MedGen UID:
6715
•Concept ID:
C0018564
•
Anatomical Abnormality
An abnormality affecting one or both hands.
See: Feature record | Search on this feature
Joint subluxation
MedGen UID:
83065
•Concept ID:
C0332768
•
Injury or Poisoning
A partial dislocation of a joint.
See: Search on this feature
Irregular tarsal ossification
MedGen UID:
867196
•Concept ID:
C4021554
•
Finding
Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
See: Feature record | Search on this feature
Gingival overgrowth
MedGen UID:
87712
•Concept ID:
C0376480
•
Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
See: Feature record | Search on this feature
Skin nodule
MedGen UID:
52367
•Concept ID:
C0037287
•
Finding
Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.
See: Feature record | Search on this feature
Corneal dystrophy
MedGen UID:
3619
•Concept ID:
C0010036
•
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
See: Feature record | Search on this feature
Subepithelial corneal opacities
MedGen UID:
341745
•Concept ID:
C1857307
•
Finding
See: Feature record | Search on this feature
Anterior cortical cataract
MedGen UID:
347415
•Concept ID:
C1857308
•
Finding
A cataract that affects the anterior part of the cortex of the lens.
See: Feature record | Search on this feature
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Term Hierarchy

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

Recent clinical studies

Etiology

Combined orthodontic and surgical treatment for a patient with Hallermann-Streiff-Francois syndrome, severe obstructive sleep apnea, and history of antiresorptive medication.
Sondeijker CFW, Apperloo RC, Kalaykova SI, Baan F, Maertens JKM
Am J Orthod Dentofacial Orthop 2021 Jan;159(1):97-107. Epub 2020 Nov 11 doi: 10.1016/j.ajodo.2019.06.026. PMID: 33189488
Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: report of four cases.
Pasyanthi B, Mendonca T, Sachdeva V, Kekunnaya R
Eye (Lond) 2016 Sep;30(9):1268-71. Epub 2016 Jul 29 doi: 10.1038/eye.2016.161. PMID: 27472202Free PMC Article

Diagnosis

Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic.
Gupta H, Kandalkar B
Indian J Ophthalmol 2022 Jul;70(7):2602-2604. doi: 10.4103/ijo.IJO_3109_21. PMID: 35791167Free PMC Article
A patient with dermo-chondro-corneal dystrophy (François syndrome) and acute dyspnea.
Jansen G, Borgstedt R, Lang E, Rehberg S
Intensive Care Med 2019 Aug;45(8):1145-1146. Epub 2018 Oct 23 doi: 10.1007/s00134-018-5428-x. PMID: 30353382
Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: report of four cases.
Pasyanthi B, Mendonca T, Sachdeva V, Kekunnaya R
Eye (Lond) 2016 Sep;30(9):1268-71. Epub 2016 Jul 29 doi: 10.1038/eye.2016.161. PMID: 27472202Free PMC Article
François syndrome. Early diagnosis and management.
Walther JU, Konopizky B, Schimanek P
Ophthalmic Paediatr Genet 1985 Aug;6(1-2):303-6. PMID: 4069589
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome.
Bardelli AM, Lasorella G, Barberi L, Vanni M
Ophthalmic Paediatr Genet 1985 Aug;6(1-2):343-7. PMID: 3934624

Prognosis

Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review.
Hidalgo-Bravo A, Acosta-Nieto ML, Normendez-Martinez MI, Rodriguez-Gonzalez NF, Paz-Gomez F, Valdes-Flores M, Kramis-Hollands M
Am J Med Genet A 2016 Feb;170A(2):446-451. Epub 2015 Oct 5 doi: 10.1002/ajmg.a.37423. PMID: 26440764

Clinical prediction guides

Combined orthodontic and surgical treatment for a patient with Hallermann-Streiff-Francois syndrome, severe obstructive sleep apnea, and history of antiresorptive medication.
Sondeijker CFW, Apperloo RC, Kalaykova SI, Baan F, Maertens JKM
Am J Orthod Dentofacial Orthop 2021 Jan;159(1):97-107. Epub 2020 Nov 11 doi: 10.1016/j.ajodo.2019.06.026. PMID: 33189488
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome.
Bardelli AM, Lasorella G, Barberi L, Vanni M
Ophthalmic Paediatr Genet 1985 Aug;6(1-2):343-7. PMID: 3934624
Hallermann-Streiff-Francois syndrome.
Aracena T, Sangueza P
J Pediatr Ophthalmol 1977 Nov-Dec;14(6):373-8. PMID: 604445

Supplemental Content

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