Miller syndrome

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Miller syndrome
Other namesMandibulfacial dysostosis with postaxial limb anomalies
autosomal recessive
manner.

Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dysostosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in the

DHODH gene. The incidence of the condition is not known, and nothing is known about its pathogenesis
.

Presentation

The syndrome consists of severe

femora, ossification defects of the ischium and pubis, bilobed tongue, lung hypoplasia, and renal reflux.[citation needed
]

Cause

The gene responsible for this disorder is

mitochondrial membrane.[citation needed
]

Genetics

A mutation in this gene was reported by Morgan in 1910 in the fruit fly

DHODH gene.[1]

Diagnosis

Differential diagnosis

The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis). Other types of axial cranial dysostosis included the Kelly, Reynolds, Arens (Tel Aviv), Rodríguez (Madrid), Richieri-Costa and Patterson-Stevenson-Fontaine forms.[citation needed]

Treatment

History

This condition was first described in 1969 by Genée, who assumed the condition to be an extreme form of Treacher Collins syndrome (dysostosis mandibulofacialis).[4] Wiedemann in 1975 described it as a separate entity.[5] Further cases were reported by Wildervanck in 1975[6] and by Miller et al in 1979[7] The syndrome was named the Genée-Wiedemann syndrome in 1987.[8] A family harboring Miller syndrome was the first human family to be ever sequenced with whole genome sequencing.[9]

Eponym

Genée–Wiedemann syndrome is named after two German physicians: Ekkart Genée (1936–), and his mentor Hans-Rudolf Wiedemann (1915–2006).[citation needed]

References

  1. ^
    PMID 19915526
    .
  2. PMID 20220176
    .
  3. PMID 17759620
    .
  4. ^ Genée E (1969). "Une forme de dysostose mandibulo-faciale" [A form of mandibulo-facial dysostosis]. J. De Génét. Humaine (in French). 17: 45–52.
  5. PMID 4795571
    .
  6. ^ Wildervanck LS (1975). "Case report 28". Syndrome Identification. 3 (1): 1–13.
  7. PMID 501501
    .
  8. S2CID 40957043
    .
  9. ^ McAuliffe, Kathleen (April 27, 2011). "#5: Family Genomics Links DNA to Disease". Discover. January/February 2011.

External links

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