Specially designed for dermatologists, pediatricians, and family physicians, this user-friendly guide to genetic skin disorders is an ideal resource for both board preparation and clinical practice. [books.google.com]

The pattern of these features is important when a physician tries to make a formal diagnosis. In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. [nfed.org]

[…] id 148210 Years Published 1992, 1993, 1995, 1997, 2000, 2004, 2006 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. [rarediseases.org]

Symptoms - Keratitis- hereditary * Eye inflammation * Watery eyes * Bloodshot eyes * Sensitivity to light * Blurred vision * Eye pain * Corneal scarring * Impaired vision * Underdeveloped macula Causes - Keratitis- hereditary The prevalence is unknown [checkorphan.org]

OS: Healthy-appearing optic nerve with cup-to-disc ratio 0.15; normal macula, vessels, and periphery. [eyerounds.org]

Histopathological examination in the original DFNA9 families is said to have a unique appearance 67 with degeneration and acellularity of the spiral ligament, spiral limbus and stroma of the cristae and maculae, and replacement by eosinophilic acellular [academic.oup.com]

Aniridia (shown recently to result from mutations in the PAX6 gene) has overlapping clinical findings and a similar pattern of inheritance with ADK. [ncbi.nlm.nih.gov]

It has been suggested that this may be a variant of aniridia. Systemic Features: No systemic disease has been found. Treatment Treatment Options: There is no effective treatment. [disorders.eyes.arizona.edu]

Disease Type of connection Aniridia - cerebellar ataxia - intellectual deficit Foveal hypoplasia - presenile cataract Isolated aniridia Isolated optic nerve hypoplasia Morning glory syndrome Peters anomaly WAGR syndrome Isolated anophthalmia - microphthalmia [csbg.cnb.csic.es]

The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia Prevention - Keratitis- hereditary Not supplied. [checkorphan.org]

Concurrent blepharitis also needs addressing. In very severe cases where there is the threat of corneal perforation, systemic immunosuppression is used. [patient.info]

[…] variant of holoprosencephaly Monosomy 13q14 Schizencephaly Semilobar holoprosencephaly Septopreoptic holoprosencephaly Unilateral retinoblastoma Anophthalmia / microphthalmia - esophageal atresia Coffin-Siris syndrome Familial rhabdoid tumor X-linked dystonia-parkinsonism [csbg.cnb.csic.es]

1 2 Dystonia 12 1 Dystonia 16 1 Dystonia 24 2 Dystonia 25 2 Dystonia 3, Torsion, X-Linked 2 Dystonia 4, Torsion 1 Dystonia 5, Dopa-Responsive Type 3 Dystonia 6, Torsion 2 Dystonia 9 2 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type 3 Ectodermal [preventiongenetics.com]

X-LINKED GENES DFN1 Xq22 Deafness dystonia protein ( DDP ) Mitochondrial import protein Postlingual but rapidly progressive in early childhood. [academic.oup.com]