Paula and Bobby
Parents of Lillie
Acromegaloid Facial Appearance syndrome
What is Acromegaloid Facial Appearance syndrome?
Acromegaloid Facial Appearance syndrome is a rare disease. It is also known as Afa Syndrome Thick Lips And Oral Mucosa.
Acromegaloid Facial Appearance syndrome is characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, in addition to doughy hands, gingival overgrowth and hyperextensible joints. The inheritance pattern is believed to be autosomal dominant.
The facial features are progressive in nature and might be a problem cosmetically. Thickening of the intraoral mucosa is followed by thickening of the lips and the skin around the eyes. The nose becomes bulbous, and in the mouth, the mucosal folds become exaggerated and the frenula thicken. Mildly affected cases show only slight swelling of the lower lip and upper eyelids. The hands are broad and the fingers tapered. The skin itself has a doughy consistency.
Dallapiccola et al., (1992) reported a mother and four children with a similar condition and Kini and Clayton-Smith (2004) a child and her paternal grandmother. In the latter family, the child had severe learning difficulties, as did some of the members of the Dallapiccola et al., (1992) family.
da-Silva et al., (1998) reported a boy with similar features. Macrocephaly and an arachnoid cyst in the right middle fossa were noted. Zelante et al., (2000) reported a similar case.
Ghazi et al., (2013) reported a female patient with coarse facies, bulbous nose, thickened lips, narrow palpebral fissure, high arched eyebrows, terminal hypertrichosis, torus platinus and normal hormone levels. Her son had the same dysmorphic features.
Czeschik et al., (2013) reviewed the cases reported to date (n=19). Acromegaloid features, gingival overgrowth and hyperextensible joints were universal features. Developmental delay was reported in approximately 40% of the cases (7/19).
Increased birth weight may be a feature (Czeschik et al., 2013).
Age of Onset:
Signs develop as early as 6 months.
* This information is courtesy of the L M D.
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What gene changes cause Acromegaloid Facial Appearance syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 102150 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ABCC9 - 12p12.1
What are the main symptoms of Acromegaloid Facial Appearance syndrome?
The typical symptoms of the syndrome are:
Thick eyebrow, Synophrys, Thick lower lip vermilion, Craniofacial hyperostosis, Thickened skin, Everted lower lip vermilion, Coarse facial features, Seizure, Palpebral edema, Autosomal dominant inheritance, Abnormality of the nasal alae, Abnormality of the mouth, Abnormality of the metacarpal bones, Abnormality of the tongue, Bulbous nose, Blepharophimosis, Abnormal nasal morphology, Large for gestational age, Sloping forehead, Tapered finger, Micrognathia, Large hands, Joint hypermobility, Specific learning disability, Intellectual disability, mild, Hypertelorism, Cognitive impairment, Highly arched eyebrow, Gingival overgrowth
How does someone get tested for Acromegaloid Facial Appearance syndrome?
The initial testing for Acromegaloid Facial Appearance syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
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