Myopia, and Ectodermal dysplasia

Diseases related with Myopia and Ectodermal dysplasia

In the following list you will find some of the most common rare diseases related to Myopia and Ectodermal dysplasia that can help you solving undiagnosed cases.


Top matches:

Medium match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

Medium match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Medium match GAPO SYNDROME


GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophy

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAPO SYNDROME

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Other less relevant matches:

Medium match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Medium match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Low match CRANIOECTODERMAL DYSPLASIA 4; CED4


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Low match MYOPIA 6; MYP6


Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.

Related symptoms:

  • Myopia


SOURCES: MESH OMIM MENDELIAN

More info about MYOPIA 6; MYP6

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Low match KERATOSIS FOLLICULARIS SPINULOSA DECALVANS


Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.

KERATOSIS FOLLICULARIS SPINULOSA DECALVANS Is also known as keratosis follicularis spinulosa decalvans cum ophiasi

Related symptoms:

  • Myopia
  • Alopecia
  • Hyperkeratosis
  • Photophobia
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KERATOSIS FOLLICULARIS SPINULOSA DECALVANS

Low match NEUROECTODERMAL MELANOLYSOSOMAL DISEASE


Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Top 5 symptoms//phenotypes associated to Myopia and Ectodermal dysplasia

Symptoms // Phenotype % cases
Nystagmus Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopia and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hearing impairment Anteverted nares Absent eyebrow Photophobia Cutis laxa Sparse eyebrow Sparse eyelashes Alopecia Intellectual disability Corneal opacity Sparse and thin eyebrow Retinal detachment Hypotrichosis Hyperhidrosis Cleft palate Dry skin Omphalocele Abnormality of the skeletal system Visual impairment Microcephaly Hypertelorism Umbilical hernia Micrognathia Sparse hair Low-set ears Depressed nasal bridge Hernia

Rare Symptoms - Less than 30% cases


Blepharitis Alopecia of scalp Optic atrophy Abnormal vitreous humor morphology Keratitis Chronic kidney disease Delayed skeletal maturation Abnormality of dental enamel Muscular hypotonia Corneal scarring Hypohidrosis Sparse scalp hair Joint hyperflexibility Subcortical cerebral atrophy Cerebral cortical hemiatrophy Seizures Platyspondyly Glaucoma Elevated serum creatinine Midface retrusion Long philtrum High forehead Cerebellar hypoplasia Everted lower lip vermilion Brachydactyly Stage 5 chronic kidney disease Nephropathy Narrow chest Recurrent respiratory infections Craniosynostosis Protruding ear Full cheeks Limb undergrowth Cerebral cortical atrophy Hyperkeratosis Pectus excavatum Renal insufficiency Generalized hypotonia Short distal phalanx of finger Scarring Hypoplasia of dental enamel Ichthyosis Palmoplantar keratoderma Nail dysplasia Specific learning disability Ectrodactyly Eczema Abnormality of the nail Abnormality of the metaphysis Hepatic fibrosis Choanal atresia Conjunctivitis Follicular hyperkeratosis Wide nasal bridge Microdontia Absent eyelashes Hypoplastic nipples Ectropion Redundant skin Epicanthus Abnormality of the outer ear Fine hair Hypoplasia of the maxilla Corneal erosion Thin vermilion border Finger syndactyly Camptodactyly of finger Abnormality of the pinna Camptodactyly Malar flattening Short nose Flexion contracture Hypoplasia of the zygomatic bone Sagittal craniosynostosis Ichthyosis follicularis High palate Sensorineural hearing impairment Strabismus Cataract Dementia Hypertonia Polydactyly Hypoplasia of the bladder Rigidity Abnormality of movement Severe short stature Hypopigmentation of the skin Scleritis Unilateral chest hypoplasia Muscle stiffness Premature graying of hair Macrotia Tremor Thin fingernail Erythema Astigmatism Talipes Nail dystrophy Papule Hip dislocation Perifollicular fibrosis Respiratory tract infection Hydronephrosis Developmental regression Ataxia Abnormality of the kidney Hypertension Mental deterioration Spasticity Agenesis of corpus callosum Smooth philtrum Macular dystrophy Cryptorchidism Flattened epiphysis Thin nail Interstitial pneumonitis Short nail Tubulointerstitial abnormality Broad toe Renal magnesium wasting Incisional hernia Broad distal phalanges of all fingers Malformation of the hepatic ductal plate Abnormality of the cerebellar vermis Scoliosis Failure to thrive Abnormality of the optic nerve Feeding difficulties Inguinal hernia Intrauterine growth retardation Ventriculomegaly Respiratory distress Hypoplasia of the corpus callosum Intellectual disability, severe Kyphosis Hypopigmentation of hair Immunodeficiency Microphthalmia Abnormal pelvis bone morphology Generalized hyperpigmentation Dilatation Recurrent infections Pulmonary hypoplasia Punctate keratitis Postaxial polydactyly Joint hypermobility Atonic seizures Nephronophthisis Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Cutaneous finger syndactyly Congenital ichthyosiform erythroderma Abnormal eyelash morphology Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Broad distal phalanx of finger Intestinal obstruction Cone/cone-rod dystrophy Abnormal eyelid morphology Broad phalanx of the toes Bone marrow hypocellularity Abnormality of the upper urinary tract Asthma Cheilitis Alopecia universalis Oxycephaly Hip dysplasia Thin eyebrow Abnormality of the abdominal wall Recurrent pneumonia Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Pes valgus Bifid scrotum Folliculitis Abnormality of the ribs Paronychia Abnormality of the hair Abnormal vertebral morphology Renal dysplasia Rod-cone dystrophy Epidermal acanthosis Oligohydramnios Hemivertebrae Entropion Postaxial hand polydactyly Facial erythema Pneumonia Scarring alopecia of scalp Brain atrophy Multicystic kidney dysplasia Episcleritis Abnormal nasolacrimal system morphology Urticaria Retinopathy Unilateral renal agenesis Erythroderma Abnormality of temperature regulation Psoriasiform dermatitis Scaling skin Corneal dystrophy Recurrent bacterial infections Abnormality of the hand Dystrophic fingernails Plagiocephaly Opacification of the corneal stroma Hyperconvex fingernails Hypermetropia Aganglionic megacolon Postnatal growth retardation Abnormal diaphysis morphology Esotropia Amblyopia Recurrent otitis media Osteoarthritis Thick lower lip vermilion High myopia Cerebral calcification Otitis media Bifid uvula Ectopia lentis Flat face Genu valgum Congenital cataract Arthralgia Proptosis Brachycephaly Depressivity Coxa valga Thickened calvaria Ventral hernia Lens luxation Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Hypoplastic frontal sinuses Absent frontal sinuses Ulnar bowing Aplasia cutis congenita Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Radial bowing Vitreoretinopathy Pierre-Robin sequence Long uvula Absent hair Meningeal calcification Dental malocclusion Abnormality of the genital system Thin skin Hypertrichosis Interphalangeal joint contracture of finger Hypoplasia of penis Ambiguous genitalia Underdeveloped nasal alae Short metacarpal Cutaneous syndactyly Abnormality of skin pigmentation Toe syndactyly Microtia Wide mouth Syndactyly Talipes equinovarus Delayed speech and language development Short chin Sacral dimple Microtia, third degree Breast hypoplasia Ablepharon Cryptophthalmos Abnormality of female external genitalia Short upper lip Abnormal nasal morphology Overbite Excessive wrinkled skin Absent nipple Atresia of the external auditory canal Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Labial hypoplasia Conical tooth Abnormal hair pattern Abnormality of finger Shallow orbits Abnormality of the mouth Small proximal tibial epiphyses Small distal femoral epiphysis Hepatic cysts Retinal dystrophy Short ribs Short toe Rhizomelia Hypotelorism Hypodontia Single transverse palmar crease High, narrow palate Hepatic failure Abnormality of the fingernails Dolichocephaly Joint laxity Telecanthus Respiratory failure Osteoporosis Clinodactyly of the 5th finger Clinodactyly Hypocalcemia Widely spaced teeth Congestive heart failure Fibular hypoplasia Slow-growing hair Abnormal toenail morphology Anodontia Tubulointerstitial nephritis Taurodontia Scaphocephaly Protuberant abdomen Short humerus Bicuspid aortic valve High hypermetropia Prominent occiput Short thorax Thoracic hypoplasia Abnormality of dental morphology Cupped ear Radial deviation of finger Abnormality of cardiovascular system morphology Hepatomegaly Arrhythmia Small nail Increased intracranial pressure Hemangioma Abnormal palate morphology Atherosclerosis Aminoaciduria Nephrolithiasis Abnormal form of the vertebral bodies Amenorrhea Abnormality of pelvic girdle bone morphology Delayed eruption of teeth Cleft upper lip Broad forehead Cleft lip EEG abnormality Mandibular prognathia Hypogonadism Hypopigmented skin patches Hyperextensible skin Early balding Abnormality of the cerebral vasculature Hypoplastic areola Tetraamelia Dysmenorrhea Asymmetry of the thorax Thick nasal alae Fingernail dysplasia Nasolacrimal duct obstruction Abnormality of the neck Abnormality of the thorax Oligospermia Decreased skull ossification Skin tags Abnormality of the clavicle Palpebral edema Underdeveloped supraorbital ridges Prematurely aged appearance Keratoconus Aplasia/Hypoplasia of the macula



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Delayed skeletal maturation, related diseases and genetic alterations

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