Paula and Bobby
Parents of Lillie
Acrofacial Dysostosis, Catania Type
What is Acrofacial Dysostosis, Catania Type?
This rare disease is a genetic syndrome which was first identified in 1993, as a new form of acrofacial dysostosis.
A short stature and unique facial features are characteristic of the syndrome.
Research is still ongoing into the exact causes of this orphan syndrome.
This syndrome is also known as:
Afd; Catania Type
What gene changes cause Acrofacial Dysostosis, Catania Type?
As yet the exact gene and mutation responsible for the syndrome is unknown.
Research is still ongoing.
The exact mode of inheritance was unknown at the time this entry was recorded.
What are the main symptoms of Acrofacial Dysostosis, Catania Type?
Symptoms include mild growth delay intrauterine, with a short stature post birth.
Facial features of the syndrome include a short stature, a very small head, widow’s peak and a high, prominent forehead. A simian hand crease is also a common feature, as are short and webbed fingers and toes.
Other health conditions related to the syndrome include hernias, genital abnormalities in males and tooth decay.
Possible clinical traits/features:
Abnormality of periauricular region, Abnormal palate morphology, Abnormality of the philtrum, Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short nose, Micrognathia, Pectus excavatum, Reduced number of teeth, Short palm, Microcephaly, Spina bifida occulta, Premature birth, Downslanted palpebral fissures, Brachydactyly, Displacement of the urethral meatus, Cryptorchidism, Delayed skeletal maturation, Clinodactyly of the 5th finger, Coarse hair, Finger syndactyly, Facial cleft, Webbed neck, Single transverse palmar crease, Short stature, High forehead, Hernia of the abdominal wall, Hypoplasia of the zygomatic bone, Cognitive impairment
How does someone get tested for Acrofacial Dysostosis, Catania Type?
The initial testing for Acrofacial Dysostosis, Catania Type syndrome 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 Acrofacial Dysostosis, Catania Type
Opitz et al., (1993) reported a mother and four sons with what they felt was a form of acrofacial dysostosis. the mother was as severely affected as her sons. Affected individuals were mentally retarded and had microcephaly. The face was characterized by downslanting palpebral fissures, a long and simple philtrum, sparse lateral eyebrows, a short nose, malar hypoplasia, micrognathia, low-set, posteriorly rotated ears, and an overbite. Two affected individuals had preauricular pits. The neck was slightly webbed. In the hands, there was very mild cutaneous syndactyly, clinodactyly of the 5th fingers, and short thumbs. Cryptorchidism, hypospadias, and inguinal herniae might also have been part of the condition. The inheritance in this family is either X-linked dominant or autosomal dominant. There are considerable similarities to the possible X-linked type of mandibulofacial dysostosis report by Toriello et al., (1985) (qv), but those cases did not have hand abnormalities. However, the hand abnormalities in the Opitz et al. cases are rather subtle.
Wulfsberg et al., (1996) reported a mother and child with what they felt was the same condition. A new patient was reported by Aguirre-Guillen et al., (2015). Additional features included a quite severe ptosis and spina bifida occulta.
* This information is courtesy of the L M D.
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