Ectopia Lentis & Sparse Hair: Causes & Reasons

Neu Starten

Ad Html Headline Ad Text Headline

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Restart test

Caution! In case of an emergency:

Seek emergency care

Hi, I'm Symptoma.

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Patient File

Sex unknown, Age unknown

Reported Symptoms

Ectopia Lentis, Sparse Hair,

Negated

None

Unsure

None

Possible Causes

Homocystinuria

KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan [ncbi.nlm.nih.gov]

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]

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]

Show info

Goldberg-Shprintzen Syndrome

[…] 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]

hair), cleft palate and iris coloboma. [humpath.com]

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]

Show info

Oculo-Osteo-Cutaneous Syndrome

Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis [rgd.mcw.edu]

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 Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome [familydiagnosis.com]

Show info

Tricho-Retino-Dento-Digital Syndrome

(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]

T cell immunodeficiency primary TRAPS (TNF-receptor-associated periodic syndrome) Taurodontia absent teeth sparse hair Teebi Naguib Alawadi syndrome Teeth noneruption of with [mindmappedia.com]

Tamari–Goodman syndrome Tang Hsi Ryu syndrome Tangier disease TAR syndrome Tardive dyskinesia Tarsal tunnel syndrome Taste disorder TAU syndrome Taurodontia absent teeth sparse [ipfs.io]

Show info

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia [rgd.mcw.edu]

An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. Clin. Dysmorph. 3: 309-317, 1994. [omim.org]

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]

Show info

Coats Plus Syndrome

(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, and dysplastic nails without cyst formation. [ncbi.nlm.nih.gov]

AB - In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. [research.manchester.ac.uk]

Show info

Renpenning Syndrome

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 ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal [mousephenotype.org]

hair. [hal.archives-ouvertes.fr]

Show info

Absent Thumb - Short Stature - Immunodeficiency Syndrome

Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse. [kumc.edu]

hair, eyelashes, and, or eyebrows, small stature and predisposition to skin cancer and osteosarcoma are some key features of this syndrome. {2,3} Other features in individual [pediatriconcall.com]

lentis, 4 skeletal manifestations (tall stature, high arched palate, dental crowding, hyperextensible joints, pectus excavatum) Term Definition prune belly syndrome deficienct [flashcardmachine.com]

Show info

Isolated Congenital Sclerocornea

lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea [se-atlas.de]

HYPOPLASIA; CHH Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. [mendelian.co]

/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]

Show info

Progeroid Facial Appearance with Hand Anomalies

Ectopia lentis occurs in most of the patients and is almost always bilateral. [ab-y-ss.com]

Findings include generalized absence of subcutaneous fat, frontal bossing, sparse hair and eyebrows, promi- nent veins on scalp, flat face, shallow orbits, hyper- telorism [documents.tips]

[…] scalp hair Clumsiness Gynecomastia Long eyebrows Distal amyotrophy Horizontal nystagmus Hypogonadotrophic hypogonadism Retinal atrophy Sensory axonal neuropathy Alopecia [mendelian.co]

Show info

BOD Syndrome

lentis Blepharospasm Blethen Wenick Hawkins syndrome Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood vessel disorder Bloom syndrome [bioreference.net]

Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia. [ncbi.nlm.nih.gov]

hair Hepatomegaly Failure to thrive Hypogonadism Developmental regression Hypoglycemia Spasticity Tics Cerebral atrophy Wide nose Muscle weakness Hernia Splenomegaly Obesity [mendelian.co]

Show info

Oculo-Palato-Cerebral Syndrome

(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-short stature-skin anomalies syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal [se-atlas.de]

Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature. [bredagenetics.com]

Show info

Pseudoaminopterin Syndrome

(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]

She has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular [ncbi.nlm.nih.gov]

She has short stature, microcephaly, broad forehead with high hair implantation, central verticil; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair [ashg.org]

Show info

Malignant Hyperthermia - Arthrogryposis - Torticollis

lentis Metaphyseal widening Aortic dissection Overfolded helix Abnormality of visual evoked potentials Pulmonary embolism Abnormality of the ureter Increased number of teeth [mendelian.co]

hair mental retardation seizures Microcephaly syndactyly brachymesophalangy Microcephaly with chorioretinopathy, autosomal dominant form Microcephaly with normal intelligence [en.wikipedia.org]

lentis Infantile spasms broad thumbs Tardive dyskinesia Microphthalmia associated with colobomatous cyst Mucopolysaccharidosis type IVA Epidermolysis bullosa Medium-chain [checkrare.com]

Show info

Bonnemann-Meinecke-Reich Syndrome

lentis Blepharospasm Blethen Wenick Hawkins syndrome Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood vessel disorder Bloom syndrome [bioreference.net]

[…] scalp hair Clumsiness Gynecomastia Long eyelashes Horizontal nystagmus Downslanted palpebral fissures Hypogonadotrophic hypogonadism Retinal atrophy Progressive gait ataxia [mendelian.co]

Blepharoptosis myopia ectopia lentis[?] Blepharospasm[?] Blethen Wenick Hawkins syndrome[?] Blomstrand syndrome[?] Blood Coagulation Disorders, Inherited[?] [encyclopedia.kids.net.au]

Show info

Michels-Caskey Syndrome

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]

hair and telangiectases Glomerulopathy with fibronectin deposits 1 Glomerulopathy with fibronectin deposits 2 Glucocorticoid-remediable aldosteronism Glucose transporter [rarediseases.info.nih.gov]

lentis Isolated growth hormone deficiency type 1A Isolated growth hormone deficiency type 1B Isolated growth hormone deficiency type 2 Isolated growth hormone deficiency [rarediseases.info.nih.gov]

Show info

Bagatelle-Cassidy Syndrome

hair and telangiectases Glomerulopathy with fibronectin deposits 1 Glomerulopathy with fibronectin deposits 2 Glucocorticoid-remediable aldosteronism Glucose transporter [rarediseases.info.nih.gov]

lentis Isolated growth hormone deficiency type 1A Isolated growth hormone deficiency type 1B Isolated growth hormone deficiency type 2 Isolated growth hormone deficiency [rarediseases.info.nih.gov]

Show info

Hidrotic Ectodermal Dysplasia

lentis Coxa valga Ulnar bowing Absent frontal sinuses Juvenile cataract Irregular proximal tibial epiphyses Small distal femoral epiphysis Flexion contracture Wide tufts [mendelian.co]

Sparse scalp hair and dysplastic nails are seen early in life. [en.wikipedia.org]

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]

Show info

Hydrophthalmos

lentis, Aphakia) Aniridia - Buphthalmos - Hydrophthalmos - Keratoglobus - Coloboma Ears Microtia Other face and neck Otocephaly - Webbed neck - Microstomia - Macrocheilia [bionity.com]

He had been diagnosed with hypohidrotic ectodermal dysplasia in childhood, based on sparse, fine hair, brow and eyelashes hypotrichosis, poor tolerance to heat due to low [scielo.br]

lentis Aphakia Iris Aniridia Anterior segment Axenfeld syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie [worldlibrary.org]

Show info

Tollner-Horst-Manzke Syndrome

Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [rgd.mcw.edu]

hair and telangiectases Glomerulopathy with fibronectin deposits 1 Glomerulopathy with fibronectin deposits 2 Glucocorticoid-remediable aldosteronism Glucose transporter [rarediseases.info.nih.gov]

Show info

Hawkinsinuria

We report on eight patients, all presenting initially with bilateral ectopia lentis (EL) during early childhood. [profiles.stanford.edu]

Definition An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic [uniprot.org]

Disease definition Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion [orpha.net]

Show info

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]

Show info

Thoracomelic Dysplasia

LENTIS 245180 : KIFAFA SEIZURE DISORDER 245190 : KNIEST-LIKE DYSPLASIA, LETHAL 245210 : KOUSSEFF SYNDROME 245300 : KURU 245340 : LACTATE TRANSPORTER DEFECT, MYOPATHY DUE [www5.geometry.net]

hair syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint [se-atlas.de]

Hair OMIM:273000 Teeth, Fused OMIM:273050 Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum OMIM:187000 Teeth, Odd Shapes of OMIM:187050 Teeth Present at Birth [informatics.jax.org]

Show info

Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

PPKWH Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes [mendelian.co]

Show info

Ectodermal Dysplasia Type Tricho-Odonto-Onychial

[…] cordis Ectopia lentis Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectr Ectrodactyly cardiopathy dysmorphism Ectrodactyly cleft [wikiwand.com]

* Under developed nipples * Absent nipples * Abnormal nails * Thick nails * Sparse hair * Sparse eyelashes * Sparse eyebrows * Freckles Causes - Ectodermal dysplasia tricho [checkorphan.org]

[…] cordis Ectopia lentis isolated Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectr Ectrodactyly cardiopathy dysmorphism Ectrodactyly [wikidoc.org]

Show info

Dubowitz Syndrome

lentis Infantile spasms broad thumbs Tardive dyskinesia Microphthalmia associated with colobomatous cyst Mucopolysaccharidosis type IVA Epidermolysis bullosa Medium-chain [checkrare.com]

An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial [ncbi.nlm.nih.gov]

Keywords Cleft Palate Fetal Alcohol Syndrome Facial Asymmetry Bloom Syndrome Sparse Hair These keywords were added by machine and not by the authors. [link.springer.com]

Show info

Coxoauricular Syndrome

Lentis Databases Craniosynostosis Fibular Aplasia Databases Craniosynostosis Mental Databases Craniosynostosis Mental Retardation Clefting Syndrome Databases Craniosynostosis [vadlo.com]

hair syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint [se-atlas.de]

Lentis 1, Isolated, Autosomal Dominant 20 1826 TBT001 Tabatznik Syndrome 20 1827 c LTH039 Lethal Congenital Contracture Syndrome 11 20 1828 c ECT101 Ectopia Lentis 2, Isolated [malacards.org]

Show info

Syndromic Microphthalmia Type 10

It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. [checkrare.com]

Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature. [bredagenetics.com]

Show info

Waters-West Syndrome

Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry [ukgtn.nhs.uk]

hair Congenital cataract Everted lower lip vermilion Microcornea Tented upper lip vermilion Sparse eyebrow Nevus flammeus Ataxia Intellectual disability, severe Inguinal [mendelian.co]

hair RHYNS syndrome Diabetes insipidus nephrogenic mental retardation and intracerebral calcification Propionic acidemia PAGOD syndrome Cone-rod dystrophy 3 Stickler syndrome [checkrare.com]

Show info

Amaurosis-Hypertrichosis Syndrome

lentis-chorioretinal dystrophy-myopia syndrome Endophthalmitis Endotheliitis Essential iris atrophy Familial benign flecked retina Familial congenital palsy of trochlear [se-atlas.de]

Systemic Features: Scalp alopecia and sparse body hair is common in spite of the trichomegaly of the eyebrows and eyelashes. [disorders.eyes.arizona.edu]

hair Pure autonomic failure DPM2-CDG Oto-palato-digital syndrome type 2 Early-onset, autosomal dominant Alzheimer disease Cerebral dysgenesis, neuropathy, ichthyosis, and [checkrare.com]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.