Nablus Mask-Like Facial syndrome

What is Nablus Mask-Like Facial syndrome?

It is a rare genetic syndrome, also known as a microdeletion syndrome. A mask-like facial appearance is a defining feature of the syndrome. The syndrome also presents with other unique facial features.

This syndrome is also known as:
Chromosome 8q22.1 Deletion Syndrome NMLFS

What gene changes cause Nablus Mask-Like Facial syndrome?

The syndrome is caused by a deletion on chromosome 8, specifically 8q22.1

What are the main symptoms of Nablus Mask-Like Facial syndrome?

The main symptoms of the syndrome include the presence of a mask-like facial appearance. Other unique facial features include narrow eye openings, tight and glistening facial skin, a flat and broad nose, ears that are malformed, and an unusual scalp hair pattern.

Other unique physical features of the syndrome include fingers and toes that are permanently bent, joint contractures that make movement in the hands and feet difficult.

Other symptoms include dental anomalies, mild development delay and in males undescended testes.

Possible clinical traits/features:
Prominent glabella, Sandal gap, Frontal bossing, Happy demeanor, Telecanthus, Sparse and thin eyebrow, Camptodactyly of finger, Clinodactyly, Camptodactyly, Sacrococcygeal pilonidal abnormality, Abnormal hair quantity, Sporadic, Microcephaly, Thin upper lip vermilion, Smooth philtrum, Depressed nasal ridge, External ear malformation, Finger syndactyly, Limitation of joint mobility, Craniosynostosis, Cryptorchidism, Postnatal microcephaly, Cognitive impairment, Global developmental delay, Hypoplastic nipples, Hypoplasia of the maxilla, High palate, Highly arched eyebrow, Depressed nasal bridge, Frontal upsweep of hair, Hypertelorism, Abnormality of the nares, Abnormal nipple morphology, Abnormality of the dentition, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Behavioral abnormality, Abnormal eyelash morphology, Abnormality of the antihelix, Cleft palate, Broad neck, Wide nasal bridge, Micropenis, Mask-like facies, Labial hypoplasia, Lack of skin elasticity, Joint contracture of the hand, Narrow forehead

How does someone get tested for Nablus Mask-Like Facial syndrome?

The initial testing for Nablus Mask-Like Facial 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 Nablus Mask-Like Facial syndrome

Teebi (2000) briefly reported a 4-year-old boy with a strikingly unusual facial appearance, which was described as like wearing a mask. Intelligence was normal. Head circumference was on the 3rd centile, weight on the 10th centile and height on the 5th centile. The face was expressionless and was described as long. There was an upswept frontal hairline. the facial skin was described as tight and glistening and the palpebral fissures were short with apparent hypertelorism. The eyebrows were almost absent. The nose was described as bulbous with a prominent columella. The philtrum was long and the lower lip everted. There were mild maxillary and mandibular hypoplasia. The ears were posteriorly rotated and simple, without lobules. The rest of the examination was reported as normal. Facially there were some similarities to Schwartz-Jampel and Freeman-Sheldon syndromes, however, joints and muscles appeared normal. Allanson (2001) suggested that these cases may be similar Blepharo-naso-facial syndrome (qv). Teebi (2001) disagrees with this.
Salpietro et al., (2003) reported a 21-month-old girl who appeared a convincing case. There was microcephaly and 'borderline mental retardation'.
Shieh et al., (2006) reported two cases including follow-up of the Salpietro case, who had a cryptic deletion of 8q21-q22, detected through array-CGH. The Teebi (2000) patient was relooked by Raas-Rothschild et al., (2009) plus an additional patient first diagnosed as having Schwartz-Jampel syndrome. Array-CGH in both showed the 8q22.1 microdeletion.

NB - note the case of an 8q22.1 microdeletion without the mask-like facial phenotype (Jain et al., 2010). Also, Allanson et al., (2012) reported 8 individuals with the appropriate deletions, but who lacked the characteristic features of NMLFS.
The critical region has been narrowed (Verhoff et al., 2014) and the genes FLJ46284, TRIQK, C8orf87, were not deleted.
Lance et. al. (2015) described a male patient with a 4 Mb deletion in 8q21.3-8q22.1. Clinical characteristics included moderate intellectual disability, dolichocephaly, bathrocephaly, upswept frontal hairline, tight facial skin, a long face, limited facial movement, sparse eyebrows, broad, flat nasal bridge, camptodactyly, multiple contractures, rocker bottom feet, right inguinal hernia, and bilateral cryptorchidism. Ocular findings were horizontal jerk nystagmus, single cilium, and blepharophimosis with upper and lower lid entropion.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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