loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [ more ] 0006480 Pulmonary fibrosis 0002206 Reticular hyperpigmentation 0007588 Ridged nail Grooved nails Nail ridging [ more ] 0001807 Sparse hair 0008070 Specific [rarediseases.info.nih.gov]

loss of teeth Premature adrenarche If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Prostate cancer, related diseases and genetic alterations Myopia and Hypotelorism [mendelian.co]

Keratinization of the lid margins, absent lacrimal puncta, trichiasis, cicatrizing conjunctivitis, entropion, ectropion, blepharitis, sparse eyelashes, and symblephara are important features. [disorders.eyes.arizona.edu]

Irritability Thin skin Cirrhosis Neoplasm Hypertrichosis Hemolytic anemia Pruritus Anxiety Photophobia Skin vesicle Depressivity Hepatomegaly Rare Symptoms - Less than 30% cases Nail dystrophy Microcephaly Ridged nail Abnormal eyebrow morphology Hemiparesis Blepharitis [mendelian.co]

Keratinization of the lid margins, absent lacrimal puncta, trichiasis, cicatrizing conjunctivitis, entropion, ectropion, blepharitis, sparse eyelashes, and symblephara are important features. [disorders.eyes.arizona.edu]

lacrimal punctum Vasculitis Corneal erosion Paronychia Ridged fingernail Decreased testosterone in males Impaired T cell function Cheilitis Furrowed tongue Alopecia of scalp Recurrent candida infections Poor appetite Steatorrhea Psoriasiform dermatitis [mendelian.co]

Keratinization of the lid margins, absent lacrimal puncta, trichiasis, cicatrizing conjunctivitis, entropion, ectropion, blepharitis, sparse eyelashes, and symblephara are important features. [disorders.eyes.arizona.edu]

Other skin changes can include: Early hair greying or hair loss Sparse eyelashes Nail ridging Hyperhidrosis (excessive sweating) Squamous cell carcinomas (SCC), often arising in teens or twenties (50% by 40 years). [dermnetnz.org]

Abnormal eyelash growth includes sparse eyelashes, ectropion, entropion, and trichiasis, which can lead to corneal abrasions, scarring, or infection if not treated. [ncbi.nlm.nih.gov]

hair 0008070 Specific learning disability 0001328 Squamous cell carcinoma of the skin 0006739 Thrombocytopenia Low platelet count 0001873 Showing of 26 Last updated: 3/1/2020 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

hair, distinctive facial features Hyperkeratotic skin lesion, ichthyosis-like condition Birth No Yes H, I H, N, V Noonan Syndrome, Costello Syndrome EKG Cardiologist, Neurologist, Opthalmologist Carvajal syndrome 757.4 Increased in Ecuadorian population [dermatologyadvisor.com]

Growth delay Hepatic failure Cataract Dermal atrophy Edema Jaundice Abnormality of the liver Behavioral abnormality Aseptic necrosis Hypermelanotic macule Epiphora Arthralgia Thrombocytopenia Carcinoma Myalgia Hepatocellular carcinoma Carious teeth Sparse [mendelian.co]

Signs and Symptoms Atrophy Telangiectasia Reddish appearance of face Atrophic skin Discolored skin spots Dysonchia Suppurative paronychia Reticulate grayish skin pigmentation Palmar keratosis Sole keratosis Alopecia of the scalp Premature graying of the [healthcaremagic.com]

Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. [mendelian.co]

Signs and Symptoms Atrophy Telangiectasia Reddish appearance of face Atrophic skin Discolored skin spots Dysonchia Suppurative paronychia Reticulate grayish skin pigmentation Palmar keratosis Sole keratosis Alopecia of the scalp Premature graying of the [healthcaremagic.com]

Nail pitting Pitted nails [ more ] 0001803 Oral leukoplakia Oral white patch 0002745 Osteoporosis 0000939 Premature graying of hair Early graying Premature graying Premature greying Premature hair graying [ more ] 0002216 Premature loss of teeth Early [rarediseases.info.nih.gov]

Palmar keratosis Sole keratosis Alopecia of the scalp Premature graying of the hair Hyperhidrosis Hyperkeratosis of the palms and soles Loss of dermal ridges on fingers and toes Nail dystrophy Mucosal leukoplakia of buccal mucosa, tongue, and oropharynx Dysphasia [healthcaremagic.com]

Demyelination Dysmyelopoietic syndrome see Myelodysplastic syndrome Dysosteosclerosis Dysostosis Dysostosis multiplex see Dysostosis Dysostosis, cleidocranial see Cleidocranial dysplasia Dyspareunia Dyspepsia functional see Non-ulcer dyspepsia Dysphagia Dysphasia [diseasesdatabase.com]