[Abstract] Mandibuloocular dyscephalia
The syndrome is a group of syndromes characterized by short stature, hypoplasia, cataracts, and sparse hair. [Alias] Mandibular-ocular-facial-cranial hypoplasia-hair scarcity syndrome; congenital cataract and hair scarcity; Fremery-Dohna syndrome; Ullrich-Fremery-Dohna syndrome; Francois syndrome. [Etiology] Not known. It may be autosomal recessive, but there are also a number of disseminated cases, or the frontal lobe development may be impaired at the 5th to 7th week of embryonic life due to teratogenic substances. [Clinical manifestations] Oral and facial anomalies: underdevelopment of the lower face, small mouth, high arched palate, misalignment, parrot nose, facial appearance like a bird’s head. Cranial malformation: rounded forehead, triangular head, short head deformity, delayed closure of fontanelle. Ocular disorders: congenital cataracts on both sides, spontaneous rupture and resorption, microphthalmia, corneal malformations, blue sclera, nystagmus, strabismus, ptosis, lid fissures slanted outward and downward, etc. Skin and hair abnormalities: leukoplakia, leukodystrophy, skin atrophy, sparse hair, eyebrows, axillary hair, pubic hair, etc., frontal-occipital baldness. Other abnormalities: short stature, but the proportion of all parts of the body is coordinated, as a proportional dwarf; auricular deformity; osteoporosis, etc. [Diagnosis] Diagnosis should be made based on clinical manifestations. Franceschetti-Klein syndrome (mandibulofacial hypoplasia): also has small lower award and lid fissure deformity, but also has zygomatic hypoplasia, no cataract and dwarfism. 2. Meyer-Schwickerath syndrome (oculo-dental-finger hypoplasia syndrome): There are ophthalmoplegia and abnormalities of the oromandibular system, sparse hair, etc., but there are finger and toe deformities. 3. Down syndrome (trisomy of chromosome 21): There are manifestations of small jaws, small eyes, dwarfism, etc. It is also associated with wide orbital spacing and abnormal external genitalia, and the karyotype is 47, XX, +21 or 47, XY, +21. [Treatment] Plastic surgery is performed to treat the relevant malformations. [Prognosis] There appears to be no effect on life expectancy. A small number of cases may die in infancy due to pneumonia or severe feeding difficulties.