Dutch English Estonian Finnish French German Greek Hebrew Hindi Hungarian Icelandic Indonesian Italian Japanese Korean Latvian Lithuanian Malagasy Norwegian Persian Polish Portuguese Romanian Russian Serbian Slovak Slovenian Spanish Swedish Thai Turkish Vietnamese [dictionary.sensagent.com]

pitched voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001620 18 sparse lateral eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0005338 19 abnormal toenail morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0008388 20 exotropia 60 33 [malacards.org]

pitched voice 0001620 Long face Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ] 0000276 Mandibular prognathia Big lower jaw Increased projection [rarediseases.info.nih.gov]

Other clinical features include a high-pitched voice; distinct facial features, including a long, narrow face, micrognathism, and prominent nose and ears; pigmentation changes of the skin including hypo-pigmented and hyper-pigmented areas, cafe-au-lait [en.wikipedia.org]

Perioral radial furrows are seen in 88% of Private practice, Richmond, Virginia patients and perioral hyperpigmentation in 37.5%. e-mail: [email protected] Steiner et al (5) have reported prognathism too. 2016 Wiley Periodicals, Inc. 563 Journal [deepdyve.com]

A 31-year-old man was referred to the Department ofDermatology for palmoplantar hyperkeratosis with fissures.He had a history of premature loss of the teeth and presentedwith mental retardation, a long narrow face, prognathism, anddivergent squint. [docslide.net]

We provide extensive clinical information on two additional unrelated patients with this distinctive disorder and propose the name LAPS syndrome, to reflect the most consistently recognized features, namely, Laryngotracheal stenosis, Arthropathy, Prognathism [biomedsearch.com]

Dystrophic; hypochromic Natal teeth; irregular eruption of secondary dentition; malocclusion Dystrophic; absent Normal Face: prognathism; thick lips. [onlinelibrary.wiley.com]

GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcephaly, Macrotia, and Mental Retardation Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism [rgd.mcw.edu]

tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal [en.wikipedia.org]

[…] creatine deficiency syndrome Cerebral Visual Impairment and Intellectual Disability Cerebrocostomandibular Syndrome Cerebrofaciothoracic Dysplasia Cerebrooculofacioskeletal Syndrome Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome [rgd.mcw.edu]

Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. [ncbi.nlm.nih.gov]

Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma) and hypodontia. [en.wikipedia.org]

Clinical description Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Genetic counseling Transmission is autosomal recessive. [orpha.net]

Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, , disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma ) and hypodontia. [wiki30.com]

Its main effect is the decrease inscaling and hyperkeratosis. Mashshini-Jason et al.5 reportedthe use of acitretin in a patient who presented with hidrotic ED(with palmoplantar hyperkeratosis, anodontia, and nail and hairdystrophies). [docslide.net]

Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma) and hypodontia. [en.wikipedia.org]

Perioral radial furrows are seen in 88% of Private practice, Richmond, Virginia patients and perioral hyperpigmentation in 37.5%. e-mail: [email protected] Steiner et al (5) have reported prognathism too. 2016 Wiley Periodicals, Inc. 563 Journal [deepdyve.com]

Frequent (79-30%) HP:0008404 6 hypodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000668 7 furrowed tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000221 8 palmoplantar hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0000972 9 perioral hyperpigmentation [malacards.org]

Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, , disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma ) and hypodontia. [wiki30.com]

[…] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Nail dystrophy Poor nail formation 0008404 Palmoplantar hyperkeratosis Thickening of the outer layer of the skin of the palms and soles 0000972 Perioral hyperpigmentation [rarediseases.info.nih.gov]

79-30%) HP:0000972 9 perioral hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0010802 10 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303 11 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670 12 yellow [malacards.org]

nails 0011367 Showing of 21 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

nail syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome Yim Ebbin Syndrome Yorifuji Okuno Syndrome YOU-HOOVER-FONG SYNDROME Young Hughes Syndrome Young Syndrome Yunis-Varon syndrome Zadik Barak Levin Syndrome Zazam Sheriff Phillips Syndrome Zechi-Ceide [rgd.mcw.edu]

Archives of Dermatology and Syphilology 55(6): 749-760, 1947 Linear acanthosis nigricans on the anterior neck: Koebner phenomenon observed in a patient with acanthosis nigricans. [eurekamag.com]

Annals of Dermatology 28(5): 637-639, 2016 Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome?. [eurekamag.com]

Gupta, Tyrosinaemia type II with diffuse plantar keratoderma and self‐mutilation, Clinical and Experimental Dermatology, 31, 1, (54-56), (2005). [doi.org]

Mutations in this gene have been associated with congenital insensitivity to pain with anhidrosis, self-mutilating behavior, mental retardation and cancer. [diki.pl]

“Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation”. Clin Exp Dermatol. vol. 31. 2006. pp. 54-6. (Case report of tyrosinaemia type II with additional features of self-harm and diffuse plantar keratoderma.) [dermatologyadvisor.com]

Gupta, Tyrosinaemia type II with diffuse plantar keratoderma and self‐mutilation, Clinical and Experimental Dermatology, 31, 1, (54-56), (2005). [doi.org]

Mutations in this gene have been associated with congenital insensitivity to pain with anhidrosis, self-mutilating behavior, mental retardation and cancer. [diki.pl]

“Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation”. Clin Exp Dermatol. vol. 31. 2006. pp. 54-6. (Case report of tyrosinaemia type II with additional features of self-harm and diffuse plantar keratoderma.) [dermatologyadvisor.com]

Most patients have a long narrow face with up- syndrome: treatment with acitretin. Int J Dermatol slanting palpebral fissures. Midface hypoplasia is 2008;47:1330–1331. common. Strabismus and proptosis have also been SHAILENDRA KAPOOR, M.D. reported. [deepdyve.com]

A 31-year-old man was referred to the Department ofDermatology for palmoplantar hyperkeratosis with fissures.He had a history of premature loss of the teeth and presentedwith mental retardation, a long narrow face, prognathism, anddivergent squint. [docslide.net]

Other clinical features include a high-pitched voice; distinct facial features, including a long, narrow face, micrognathism, and prominent nose and ears; pigmentation changes of the skin including hypo-pigmented and hyper-pigmented areas, cafe-au-lait [en.wikipedia.org]

In this case, a mild ptosis may be associated with ipsilateral ptosis, iris and areola hypopigmentation and anhidrosis due to the paresis of the Mueller muscle. [diki.pl]

Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy Spastic Paresis [rgd.mcw.edu]