Phenotypes for disease #05764 (IFAP (ichthyosis, follicular, with atrichia and photophobia syndrome))

34 entries on 1 page. Showing entries 1 - 34.
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0000230328 IFAP syndrome - severe hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus Familial, autosomal dominant 48y - - - Johan den Dunnen 00303244
0000230329 IFAP syndrome - moderate hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus Familial, autosomal dominant 16y - - - Johan den Dunnen 00303245
0000230330 IFAP syndrome - atrichia; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus Familial, autosomal dominant 47y - - - Johan den Dunnen 00303246
0000230331 IFAP syndrome - severe hypotrichosis; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus Familial, autosomal dominant 9y - - - Johan den Dunnen 00303247
0000230332 IFAP syndrome - atrichia; ichthyosis follicularis, nail dystrophy, periorificial hyperkeratosis, hyperkeratotic plaques on Achilles tendon, knee and dorsal hands; photophobia, Meibomian gland dysfunction, cataract Isolated (sporadic) 15y - - - Johan den Dunnen 00303248
0000230333 IFAP syndrome - severe hypotrichosis; mild ichthyosis follicularis, angular cheilitis; photophobia, Meibomian gland dysfunction, cataract, xerophthalmia Isolated (sporadic) 5y - - - Johan den Dunnen 00303249
0000230334 IFAP syndrome - atrichia; ichthyosis follicularis; photophobia Isolated (sporadic) 8y - - - Johan den Dunnen 00303250
0000230335 IFAP syndrome - severe hypotrichosis, depigmented scalp hair variation in hair caliber; generalized ichthyosis follicularis; photophobia, recurrent conjunctivides, corneal keratosis and hypervascularisation Isolated (sporadic) 20y - - - Johan den Dunnen 00303251
0000230336 IFAP syndrome - atrichia; ichthyosis follicularis mainly on the trunk; Meibomian gland dysfunction, recurrent keratoconjuncitivits, progressive corneal opacification and neovessels, vision loss Isolated (sporadic) 3y - - - Johan den Dunnen 00303252
0000230337 IFAP syndrome - see paper; ... Isolated (sporadic) 7y - - - Johan den Dunnen 00303253
0000230338 IFAP syndrome - extensive non-scarring atrichia of the temporal and parietal scalp; sparse short (<2 cm), black hairs preserved over the vertex and occiput; diffuse hypotrichosis of eyebrows and eyelids; ichthyosis follicularis with psoriaform plaques involving upper and lower extremities and scalp; widespread thorn-like punctate follicular projections; angular chelitis; photophobia, severe Meibomian gland dysfunction, corneal pannus, amblyopia Isolated (sporadic) 14y - - - Johan den Dunnen 00303254
0000230339 IFAP syndrome - moderate hypotrichosis; no ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, congenital cataract Isolated (sporadic) 7y - - - Johan den Dunnen 00303255
0000230340 IFAP syndrome - atrichia, mild facial hypertrichosis; recurrent oral and genital ulcers, gingival erosions; bilateral corneal ulcers and blue dot cataract in the right eye Isolated (sporadic) 5y - - - Johan den Dunnen 00303256
0000352027 IFAP syndrome IFAP1 see paper; ..., birth35w+5, weight 1570 g; 3m-universal alopecia; skin phototype II, no scalp hair, no eyebrows, no eyelashes; prominent forehead, large ears, generalized dryness skin, follicular papules/pustules on erythematous base scattered on trunk/upper and lower limbs Unknown - - - - Johan den Dunnen 00466664
0000352028 IFAP syndrome IFAP1 see paper; ..., 5y-hair loss, roughened skin texture; birth no eyebrows, no eyelashes, normal scalp hair; photophobia; no intellectual disability Familial, X-linked recessive 05y - - - Johan den Dunnen 00466665
0000352030 IFAP syndrome IFAP1 see paper; ..., ichthyosis, follicular, atrichia, photophobia, syndromepsoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities, chorea-like movements Familial, X-linked recessive 16y - - - Johan den Dunnen 00466667
0000352032 seizures and severe mental and growth retardation IFAP1 see paper; ..., fetal intrauterine growth retardation; birth 37w; 2y-seizures, severe mental retardation, severe growth retardation Familial, X-linked recessive 02y - - - Johan den Dunnen 00466669
0000352033 IFAP syndrome IFAP1 see paper; ..., ichthyosis, alopecia, photophobia, short stature, inguinal hernia, palmoplantar keratoderma, periorificial keratoderma, pachyonychia Familial, X-linked recessive 22y - - - Johan den Dunnen 00466670
0000352034 IFAP syndrome IFAP1 see paper; ..., 34w-birth, weight 10th-25th centile, height <10th centile, no hair, eczematous scaling erythema, xerosis with spiny follicular hyperkeratosis; frequent scalp skin infection; 11m-seizures; photosensitivity no eye anomalies; global developmental delay Familial, X-linked recessive 01y09m - - - Johan den Dunnen 00466671
0000352037 IFAP syndrome IFAP1 see paper; ..., collodion baby, congenital hypothyroidism, cutaneous signs present since birth; spiny hyperkeratotic papules on scalp, ears, cheeks, elbows, and knees; periungual erythema on hands, generalized alopecia, photophobia; facial dysmorphism, atopic dermatitis-like lesions, plantar keratoderma Unknown 01y06m - - - Johan den Dunnen 00466674
0000352038 IFAP/Olmsted syndrome IFAP1 see paper; ..., total non-scarring alopecia, follicular ichthyosis trunk, generalized psoriasiform plaques, developmental delay, recurrent seizures, osteoporosis, renal insufficiency; younger brother ectrodactyly Familial, X-linked recessive 15y/12y - - - Johan den Dunnen 00466675
0000352039 IFAP syndrome IFAP1 see paper; ..., 3m-gradual loss hair/eyebrows/eyelashes; follicular papules on scalp/ears/neck, dry skin, ichthyotic scales, mild photophobia Unknown 06y - - - Johan den Dunnen 00466676
0000352040 IFAP syndrome IFAP1 see paper; ..., ichthyotic scaling, no hair, mild photophobia; mild xerosis, follicular hyperkeratosis Isolated (sporadic) 05y - - - Johan den Dunnen 00466677
0000352041 IFAP syndrome IFAP1 see p`per; ..., diffuse follicular hyperkeratosis, alopecia, photophobia; 3m-no hair, no eyelashes, no eyebrows Familial, X-linked recessive 11y - - - Johan den Dunnen 00466678
0000352068 IFAP syndrome IFAP1 see paper; ..., congenital alopecia, microcephaly, dermatitis; seizures, neurodevelopmental regression; wheelchair-bound, tube-feeding diet, nonresponsive to verbal command; superficial punctate keratopathy in central band distribution, myopia, central optic nerve head large cupping; mother retinal venous tortuosity Familial, X-linked recessive 12y/9y - - - Johan den Dunnen 00466705
0000352069 IFAP syndrome IFAP1 see paper; ..., ichthyotic skin, Hirschsprung disease, atrial septal defects,syrinx at cervicomedullary junction; hyperkeratotic eyelids, madarosis, lagophthalmos,otherwise clear corneas; bilateral central corneal epithelial defects; bilateral limbal thickening, peripheral corneal pannus with underlying stromal scarring, late fluorescein staining corneal surface; abnormal hyperreflective epithelial surface overlying thinned corneal stroma Familial, X-linked recessive 06y - - - Johan den Dunnen 00466706
0000352070 IFAP syndrome IFAP1 see paper; ..., brith dry skin, localized non-progressive non-scarring alopecia; 3y-hyperkeratosis feet; pronounced keratosis Achilles tendon; plantar keratoderma with transgrediens, ungual dysplasia; keratosis pilaris trunk/arms/legs.; esotropia, amblyopia, no photophobia; normal dentition, no intellectual disability; normal eyebrows, normal eyelashes Unknown 16y - - - Johan den Dunnen 00466707
0000352073 IFAP syndrome IFAP1 see paper; ..., 2y-congenital alopecia, follicular keratosis, photophobia; global developmental delay; absence seizures; diffuse non-scarring alopecia scalp/eyebrows, normal eyelashes Familial, X-linked recessive 02y - - - Johan den Dunnen 00466710
0000352205 IFAP syndrome IFAP1 see paper; ..., hair loss, painful hyperkeratotic lesions, birth sparse scalp hair; periodic high fevers caused by recurrent infections, rough skin, photophobia; palmoplantar keratoderma; 29y-no scalp hair, eyebrows, no eyelashes, dry skin, rough body skin, diffuse follicular hyperkeratosis scalp/trunk, photophobia, myopia , periorificial keratotic plaques mouth, anal palmoplantar keratoderma, nail dystrophy with pachyonychia, normal hearing, normal sweating, normal mucosa, no short stature, no seizures, no inguinal hernia Familial, X-linked recessive 29y - - - Johan den Dunnen 00466842
0000352206 IFAP syndrome IFAP1 see paper; ..., birth alopecia, persistent ichthyosis, scanty scalp hair/eyebrows, generalized dryness/roughness whole-body skin Familial, X-linked recessive 07y - - - Johan den Dunnen 00466843
0000352207 IFAP syndrome IFAP1 see paper; ..., alopecia scalp/eyebrows/eyelashes, mild generalized xerosis, photophobia, ecurrent angular cheilitis; normal developmental milestones Familial, X-linked recessive 08y - - - Johan den Dunnen 00466844
0000352208 IFAP syndrome IFAP1 see paper; ..., 35w-birth, severe intrauterine growth failure, hydrocephaly, posterior meningocele; 3y-diffuse xerosis, persistent follicular keratosis scalp, corkscrew-like hair, delayed occipital development, severe global developmental delay, inability to walk, measurements below SD weight/height/OFC, able to sit/babble/engage in positive social interactions, MRI brain dysgenesis corpus callosum Familial, X-linked recessive 03y - - - Johan den Dunnen 00466845
0000352209 IFAP syndrome IFAP1 see paper; ..., birth symmetric papules; infancy hair loss, photophobia, corneal edema, abrasion, conjunctivitis, superficial punctate keratitis; bilateral subepithelial fibrovascular tissue ingrowth cornea; 4y-sparse eyebrows/eyelashes, non-scarring alopecia Familial, X-linked recessive 18y - - - Johan den Dunnen 00466846
0000352210 IFAP/BRESHECK IFAP1 see paper; ..., birth severe cutaneous abnormality with collodion membrane, congenital ichthyosis with taut skin face, eclabium, ectropion, microcephaly, cryptorchidism, flattened rudimentary ears, no scalp hair, no eyebrows, no eyelashes., upper limb malformations, no right hand, bilateral shortening ulna with radius aplasia, fixed elbows, oligodactyly right hand with only fifth digit present, left foot with absence fourth digit Isolated (sporadic) - - - - Johan den Dunnen 00466847
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