Homocystinuria
Symptoms of homocystinuria include mental retardation; displacement of the lenses of the eyes; shuffling gait; fine, sparse hair; skeletal deformations; and sometimes fatal[britannica.com]
KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov]
The hereditary form features sparse blond hair, OSTEOPOROSIS with overgrowth of long bones, a hollowed chest, dislocation of the lenses of the eyes and mental retardation.[medical-dictionary.thefreedictionary.com]
Goldberg-Shprintzen Syndrome
hair), cleft palate and iris coloboma.[humpath.com]
[…] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[medicinman.cz]
One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias[diseaseinfosearch.org]
Oculo-Osteo-Cutaneous Syndrome
15 absent pubic hair 32 HP:0002555 16 hypoplastic nipples 32 HP:0002557 17 short stature 32 HP:0004322 18 opacification of the corneal stroma 32 HP:0007759 19 sparse hair[malacards.org]
Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[rgd.mcw.edu]
lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome[familydiagnosis.com]
Coats Plus Syndrome
hair, and dysplastic nails without cyst formation.[ncbi.nlm.nih.gov]
(congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com]
hair, dystrophic nails, and primeval splashes of intracranial calcification.[doi.org]
Renpenning Syndrome
hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal[mousephenotype.org]
Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.aao.org]
hair.[hal.archives-ouvertes.fr]
Isolated Congenital Sclerocornea
HYPOPLASIA; CHH Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair.[mendelian.co]
lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de]
Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org]
Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome
An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. Clin. Dysmorph. 3: 309-317, 1994.[omim.org]
Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia[rgd.mcw.edu]
Flared wide portion of long bone of upper arm 0003911 Flared iliac wings 0002869 Genu varum Outward bow-leggedness Outward bowing at knees [ more ] 0002970 Hypotrichosis Sparse[rarediseases.info.nih.gov]
Tollner-Horst-Manzke Syndrome
hair and telangiectases Glomerulopathy with fibronectin deposits 1 Glomerulopathy with fibronectin deposits 2 Glucocorticoid-remediable aldosteronism Glucose transporter[rarediseases.info.nih.gov]
Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy, lymphedema, or mental retardation[rgd.mcw.edu]
lentis Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus syndrome BOD syndrome Bohring-Opitz syndrome Bone dysplasia Azouz[rarediseases.info.nih.gov]
Hidrotic Ectodermal Dysplasia
Sparse scalp hair and dysplastic nails are seen early in life.[en.wikipedia.org]
lentis Coxa valga Ulnar bowing Absent frontal sinuses Juvenile cataract Irregular proximal tibial epiphyses Small distal femoral epiphysis Flexion contracture Wide tufts[mendelian.co]
Underdeveloped Thick, discolored Hair Fine, brittle, slow-growing Total balding (alopecia) Missing in spots for males Sparse eyelashes Sparse eyebrow Absent underarm hair[nfed.org]
Secondary Syphilis
lentis. 4 Acquired syphilis is divided conventionally into four stages. 4 Primary syphilis is characterized by the formation of a painless chancre, which typically appears[reviewofophthalmology.com]
[…] features, including Hutchinson's teeth, saddle nose deformity and deafness, and can also cause ocular complications, most notably interstitial keratitis (See Figure 1) and ectopia[reviewofophthalmology.com]