Paula and Bobby
Parents of Lillie
What is Frontofacionasal Dysplasia?
This rare disease is a congenital malformation syndrome affecting the head, face and eyes of affected individuals.
First discovered in 1981 there have been less than 10 cases diagnosed to date.
As many as 3 of the diagnosed cases were from individuals of Brazilian descent.
This syndrome is also known as:
Ffnd Frontofacionasal Dysostosis
What gene changes cause Frontofacionasal Dysplasia?
The exact cause or gene mutations are as yet unknown. The condition is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Frontofacionasal Dysplasia?
The main symptoms of the syndrome affect the head, face and eyes of individuals affected by it.
This includes skeletal abnormalities with the development of the skull, which leads to many of the unique facial features of the syndrome. These include a short and broad head, a cleft palate, cleft lip, an underdeveloped nose and malformed nostrils. Dental abnormalities may also be present.
Symptoms relating to the eyes include drooping of the upper eyelid, an inability to close the eyes, and many related eye defects and symptoms.
Possible clinical traits/features:
Microphthalmia, Midline defect of the nose, Short nose, Iris coloboma, Preauricular skin tag, Autosomal recessive inheritance, Non-midline cleft lip, Bifid uvula, Blepharophimosis, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia affecting the eye, Cataract, Brachycephaly, Ankyloblepharon, Absent inner eyelashes, Abnormality of the sense of smell, Abnormal eyelash morphology, Abnormality of calvarial morphology, Oral cleft, Eyelid coloboma, Choanal atresia, Cleft palate, Microcornea, Cranium bifidum occultum, Limbal dermoid, Encephalocele, Facial cleft, Facial asymmetry, Depressed nasal ridge, Malar flattening, Frontal cutaneous lipoma, Hypoplasia of the frontal bone, Depressed nasal bridge, Broad forehead, Short stature, Underdeveloped nasal alae, Hypertelorism, Sacrococcygeal pilonidal abnormality, Bifid nose, S-shaped palpebral fissures, Ptosis, Midface retrusion, Telecanthus
How does someone get tested for Frontofacionasal Dysplasia?
The initial testing for Frontofacionasal Dysplasia can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Frontofacionasal Dysplasia
This condition includes many of the features of fronto-nasal dysplasia, ie. there is usually marked hypertelorism, a widow's peak, cranium bifidum occultum, a bifid nose and a cleft lip and palate. The nasal alae are hypoplastic and there is often mid-facial hypoplasia. However, the eye signs are more marked than in fronto-nasal dysplasia, in that there are often eyelid colobomas, small palpebral fissures with prominent blepharophimosis, S-shaped palpebral fissures, and a limbic dermoid of the eye. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described. One patient had a coloboma of the iris, small eyes, absent eyelashes and a cataract. Some of the features are reminiscent of amniotic bands involving the face, but many of the eye abnormalities cannot be explained on this basis. White et al., (1991) reported an isolated possible case with a lipoma of the corpus callosum - however, it must be said that the diagnosis is not absolutely certain, as this feature is common in frontonasal dysplasia and the case did not have the characteristic eye signs. Anophthalmia has been reported (Blyth and Baralle, 2011).
The boy reported by Habecker-Green et al., (2000) as a case of fronto-facio-nasal dysplasia may not fall into this group. There was a very hypoplastic nose associated with anophthalmia and very small palpebral fissures perhaps reminiscent of Fraser syndrome. Interestingly there was a de novo 8q22;12q21 translocation.
Reardon et al., (1994) reported a further case with similarities to the original cases of Gollop (1981). They pointed out that only the patient reported by Rogers (1988), their case, and the Gollop (1981) cases appeared to have the same syndrome. Other reported cases are significantly different. Suthers et al., (1997) reported a possible case, although not as classical as the cases reviewed by Reardon et al., (1994) and perhaps more in line with the cases reported under Temple et al., (1990) (qv). The sisters reported by Ozkinay et al., (2000) are also unconvincing - see separate entry (Ozkinay - Fronto-facio-nasal like dysplasia).
The patient reported by Pittet et al., (2004) had gross hypertelorism, absent frontal bones and nose, multiple encephaloceles, a very arched palate, a reverse V deformity of the maxilla, complete coloboma of the left upper lid, and a right retinal coloboma. She did not seem retarded, but at the age of 4 could not talk, eat or walk alone - her right seeing eye could only focus at a 90-degree angle. She might be at the severe end of the spectrum.
Two typical cases were reported by Sieg et al., (2004) in an article entitled ""Rare facial clefts......."". The patient reported by Dubey and Garap, (2000), born to cousin parents, probably had this condition. Patient 1 in the report by Cheung et al., (2009) reported as Johanson-Blizzard syndrome, probably had this condition.
Mansour et. al. (2015) described a female patient with a 1.5 Mb duplication in the region of 7p15.2-p15.1 and Frontofacionasal Dysplasia. Gestational diabetes and urinary infections were documented. Clinical characteristics included nasopalpebral lipoma extending toward the inner canthi with apparent microphthalmia, small anterior fontanelle, midfacial hypoplasia, ocular hypertelorism, telecanthus, bilateral colobomas of the upper eyelids, S-shaped palpebral fissures, absent eyelashes, lower lids lagophthalmos, incomplete closure of the eyes, micrognathia, short philtrum, broad nasal root, and cleft hard and soft palate.
* This information is courtesy of the L M D.
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