Corneal opacities present initially improved in one eye, allowing a view of the pupil and a normal anterior chamber. [ncbi.nlm.nih.gov]

opacity 0007957 Cryptophthalmos 0001126 Dry skin 0000958 Excessive wrinkled skin 0007392 Global developmental delay 0001263 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of penis Underdeveloped penis 0008736 Hypoplasia of the [rarediseases.info.nih.gov]

It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently [icd10data.com]

Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. [ncbi.nlm.nih.gov]

Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. [ncbi.nlm.nih.gov]

Symptoms [ edit ] Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Genetics [ edit ] AMS is inherited in an autosomal dominant manner. [3] [4] Like Barber-Say syndrome, AMS is caused by mutations in the TWIST2 [en.wikipedia.org]

Symptoms Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Treatment Treatment usually involves plastic and reconstructive surgery. [dictionary.sensagent.com]

Symptoms Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Treatment Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias. [checkrare.com]

Some people with AMS could also have very thin or sparse hair (alopecia); their skin appears to be wrinkled, dry, coarse, or thick; their fingers could also be webbed and with inadequate extension; the genitalia could have external malformations. [illnessopedia.org]

Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch. [uniprot.org]

RESULTS: A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly [ncbi.nlm.nih.gov]

Disease description A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. [uniprot.org]

Barber-Say syndrome (BBRSAY) [MIM:209885]: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. [genecards.org]

Disease description A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. [uniprot.org]

Barber-Say syndrome (BBRSAY) [MIM:209885]: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. [genecards.org]