Spinocerebellar atrophy type 3 Spinocerebellar degeneration corneal dystrophy Spinocerebellar degenerescence book type Spir Spirochetes disease Spirurida Infections Spl Spleen neoplasm Splenic agenesis syndrome Splenogonadal fusion limb defects micrognatia Splenomegaly [bioreference.net]

Spinocerebellar degeneration corneal dystrophy Spinocerebellar degenerescence book type Spir Spirochetes disease Spirurida Infections Spl Spleen neoplasm Splenic agenesis syndrome Splenic-flexure syndrome Splenogonadal fusion limb defects micrognatia Splenomegaly [thefullwiki.org]

Abnormally formed (dystrophic) Eyes Abnormal development of tear glands, tear ducts, and meibomian glands. [nfed.org]

N 2162 Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities (ED, absent dermatoglyphic pattern, changes in nails, and simian crease) 129200 AD 163 Pachyonychia congenita, autosomal recessive 260130 [vdocuments.net]

Syndrome ofaccelerated skeletal maturation and relative failure to thrive: A newlyrecognized clinical growth disorder. J Pediatr 78:95101. Martnez BR, Monasterio LA, Pinheiro M, Freire-Maia N. 1987. [vdocuments.net]

[…] non-traumatic avascular necrosis Semilobar holoprosencephaly Septopreoptic holoprosencephaly Severe X-linked intellectual disability, Gustavson type Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe feeding difficulties-failure [se-atlas.de]

In addition, the child had repeated episodes of constipation with bilious vomiting during infancy for which a diagnosis of fungal sepsis with Hirschsprung's disease was made and the child had to undergo a mid-sigmoid loop colostomy for that. [worldwidescience.org]

[…] stature accessory testis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch Syn Sync-Syng - Syno-Synp Sync-Syng Syncamptodactyly scoliosis Syncopal paroxysmal tachycardia [bioreference.net]

AAGGF1 and Vascular Disease Klippel-Trenaunay Syndrome AGGF1 and Vascular Disease Klippel-Trenaunay Syndrome conocer gente de fuerteventura Part D: The T-Box Gene Family 119. [haystaqcks.cf]

Saliva [ 23 ] substitutes can be used in cases of severe xerostomia. [ 23 ] The above patient was not extremely concerned about the malformation of his hands or feet. [parjournal.net]

Other ectodermal anomalies include mild hypohidrosis; coarse, dry hair with hypotrichosis; xerostomia; dystrophic nails; and dental enamel hypoplasia with microdontia. [jmedicalcasereports.biomedcentral.com]

Saliva substitutes in case of xerostomia if severe. Restoration of carious primary as well as permanent teeth. Prosthesis whenever required. Surgical closure of cleft lip is indicated at 10 weeks of age. [jisppd.com]

[…] fingers Short stature mental retardation eye anomalies Short stature mental retardation eye defects Short stature microcephaly heart defect Short stature microcephaly seizures deafness Short stature monodactylous ectrodactyly cleft palate Short stature prognathism [bioreference.net]

Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye [se-atlas.de]

Dec 18th, 2018 - Chronic urticaria (CU) carries many risk factors for osteoporosis, but data on the relation between CU and osteoporosis are lacking. To evaluate the association between CU and osteoporosis in a large community-based study. [allmedx.com]

[…] hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome [se-atlas.de]

Chronic blepha- Normal ritis Normal Normal Normal Normal Low IQ; severely Normal retarded; irre- sponsible per- sonality Not known Not known Autosomal domi- nant Not known Not known Autosomal domi- nant Slight long-bone Not known osteoporosis Not known [vdocuments.site]

Intolerance to light (photophobia) Ears Conductive hearing loss Small ears Malformed auricles (outer visible part of the ear) Other Micropenis Diminished sweating (hypohidrosis) Some renal issues have also been reported Distension and dilation of the [nfed.org]

[…] include abnormalities of the genitourinary system (i.e. renal agenesis, urethral atresia, hydronephrosis), conductive or sensorineural hearing loss, choanal atresia, mammary gland/nipple hypoplasia, ophthalmological findings (i.e. lacrimal duct defects, photophobia [orpha.net]

Other abnormalities include absence of the teeth and other dental abnormalities, decreased ability to sweat, absence of tear ducts, photophobia (increased sensitivity to light), and kidney abnormalities. [encyclopedia.com]

Clinically (Fig. l), she had a narrow nose with hypoplastic alae nasi, a small mouth, absent lacrimal punctae, epiphora, ectropion, photophobia, and partial deafness. Cutaneous syndactyly was not present. [vdocuments.site]

renal agenesis, urethral atresia, and hydronephrosis), conductive or sensorineural hearing loss, choanal atresia, mammary gland or nipple hypoplasia, ophthalmological findings (i.e. nasolacrimal duct [NLD] obstruction, lower lid punctal stenosis, photophobia [ijo.in]

Foundation For Rosacea Prone Skin Korea Blepharitis: Causes: Blepharitis Introduction: Blepharitis Blepharitis: Add a 2nd symptom Blepharitis: Remove a symptom Results: Causes of Blepharitis 1. Cradle Cap 2. Dyskeratosis Congenita 3. [chinapatent.us]

During young adulthood, however, the eye problems become prevalent aspects of disability: patients often show alterations of the ocular surface (blepharitis and conjunctivitis), dysfunction of corneal epithelium and poor re-epithelization following trauma [sindrome-eec.it]

(i.e. renal agenesis, urethral atresia, hydronephrosis), conductive or sensorineural hearing loss, choanal atresia, mammary gland/nipple hypoplasia, ophthalmological findings (i.e. lacrimal duct defects, photophobia, corneal ulcerations, keratitis, blepharitis [orpha.net]

[…] hydronephrosis), conductive or sensorineural hearing loss, choanal atresia, mammary gland or nipple hypoplasia, ophthalmological findings (i.e. nasolacrimal duct [NLD] obstruction, lower lid punctal stenosis, photophobia, corneal ulcerations, keratitis, blepharitis [ijo.in]

Syndactyly of Cleft lip, cleft Chronic scalp in- toes, occasion- palate fection; decu- ally also of bitus ulcer; fingers blepharitis Arachnodactyly; Cleft palate ligamental hy- perlaxity Single case--dis- Family-autoso- tinctive, strong ma1 dominant odor [vdocuments.site]

This may lead to excessive tearing and/or extremely dry eyes. This may cause inflammation of the eyelids, cornea, and conjunctiva Abnormal function of stem cells for the cornea. [nfed.org]

We report on a 16-year-old patient with ectrodactyly-ED-clefting (EEC) syndrome, who exhibited a scarring alopecia due to deep folliculitis. [karger.com]

[…] third metacarpal of some fingers * Absence of second metacarpal of some toes * Rudimentary third metacarpal of some toes * Absence of first metacarpal * Absence of fifth metacarpal * Mild nail dysplasia * Sparse hair * Thin hair * Light colored hair * Alopecia [checkorphan.org]

Abstract We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. [jmg.bmj.com]

[…] disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome [se-atlas.de]

atrophy), hair (i.e. fine and sparse hair and eyebrows), teeth (small, absent or dysplastic teeth), nails (nail dystrophy) and exocrine glands (reduction/absence of sweat, sebaceous and salivary glands). [orpha.net]

atrophy hyperkeratosis (thickened skin) Individuals affected with EEC may have hair abnormalities, including: dry, brittle hair generalized depigmentation of hair fine hair sparse hair, or alopecia areata Teeth abnormalities in affected individuals may [encyclopedia.com]

skin/generalized skin atrophy hyperkeratosis (thickened skin) Individuals affected with EEC may have hair abnormalities, including: dry, brittle hair generalized depigmentation of hair fine hair sparse hair, or alopecia areata Teeth abnormalities in [encyclopedia.com]

[…] optical nerve hypoplasia, microftalmia,16 eye alterations,17 vitreum and retina malformations18 in the shape of sickle shaped folds, congenital bilateral cataracts,20 defects in the ear pavillions skin appendages in the toes, ACC of the knee, focal hyperpigmentations [zdoc.site]

disorders syndrome X-linked hypophosphatemia X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual [se-atlas.de]

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism [se-atlas.de]

[…] malformations18 in the shape of sickle shaped folds, congenital bilateral cataracts,20 defects in the ear pavillions skin appendages in the toes, ACC of the knee, focal hyperpigmentations, hemangiomas, artery-vein malformations of the scalp, woolly hair, cryptorchidism [zdoc.site]

SUBACUTA DEGENERAZIONE PARENCHIMATOSA CORTICALE CEREBELLARE DEGENERAZIONE SPINOCEREBELLARE DI HOLMES DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT ATASSIA PERIODICA MARINESCO-SJÖGREN, SINDROME DI ATASSIA FRIEDREICH-LIKE ATASSIA-TELEANGECTASIA SINDROME CON TREMORE [happyslide.net]