Myopia, and Hypotelorism

Diseases related with Myopia and Hypotelorism

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

Top matches:

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Other less relevant matches:

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

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

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Top 5 symptoms//phenotypes associated to Myopia and Hypotelorism

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cataract

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Scoliosis High palate Microcephaly Short stature Cleft palate Ventricular septal defect Abnormality of the skeletal system Strabismus Hypertelorism Brachydactyly Intrauterine growth retardation Nystagmus Joint laxity Hernia Patent ductus arteriosus Umbilical hernia Depressed nasal bridge Anteverted nares Abnormality of the dentition Sparse hair Growth delay Fine hair Low-set ears Atrial septal defect Micrognathia Downslanted palpebral fissures Brachycephaly Frontal bossing Narrow nasal bridge Hip dislocation Inguinal hernia High forehead Clinodactyly Cutis laxa Abnormality of cardiovascular system morphology Abnormality of the fingernails Craniosynostosis Cryptorchidism Abnormal facial shape Blepharophimosis Low-set, posteriorly rotated ears Finger syndactyly Prominent forehead Posteriorly rotated ears Mandibular prognathia Hypoplasia of the corpus callosum Abnormality of the pinna Protruding ear Delayed speech and language development Hydronephrosis Postnatal growth retardation Muscular hypotonia Failure to thrive Feeding difficulties Motor delay Underdeveloped nasal alae Astigmatism Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases

Large fontanelles Patellar hypoplasia Dolichocephaly Aplasia/Hypoplasia of the patella Anal atresia Decreased fetal movement Facial asymmetry Bulbous nose Bifid uvula Prominent nose Thin upper lip vermilion Narrow nasal ridge Polydactyly Short palpebral fissure Recurrent respiratory infections Optic atrophy Hydrocephalus Respiratory distress Wide nasal bridge Behavioral abnormality Short nose Abnormal heart morphology Conductive hearing impairment Hypermetropia Cupped ear Abnormality of the nail Dandy-Walker malformation Choanal atresia Hypertrichosis Hypoplasia of dental enamel Hyperreflexia Hypoglycemia Vomiting Hypotrichosis Abnormal diaphysis morphology Sagittal craniosynostosis Slow-growing hair Taurodontia Kyphosis Fibular hypoplasia Short humerus High hypermetropia Redundant skin Abnormality of dental enamel Abnormality of the metaphysis Spasticity Delayed skeletal maturation Renal dysplasia Sacral dimple Ptosis Visual impairment Narrow mouth Pectus excavatum Clinodactyly of the 5th finger Microdontia Osteoporosis Respiratory failure Visual loss Renal hypoplasia Short distal phalanx of finger Single transverse palmar crease Narrow forehead Spina bifida occulta Vesicoureteral reflux Talipes equinovarus Camptodactyly Telecanthus Syndactyly Renal insufficiency Trigonocephaly Poor suck Hyperextensible skin Blue sclerae Microcornea Joint hypermobility Coronal craniosynostosis Cleft soft palate Gait disturbance Wormian bones Skeletal muscle atrophy Flexion contracture Muscle weakness Anterior plagiocephaly Brachyturricephaly Metopic synostosis Scaphocephaly 2-3 toe syndactyly Accelerated skeletal maturation Coxa valga Rhizomelia Hypospadias Bicoronal synostosis Abnormality of the kidney Scarring Delayed eruption of teeth Hyperintensity of cerebral white matter on MRI Thick vermilion border Upslanted palpebral fissure Arrhythmia Abnormality of the head Autistic behavior Microphthalmia Blindness Edema Wide mouth Anterior pituitary hypoplasia Respiratory tract infection Dysarthria Hypotrichosis of the scalp Short philtrum Cognitive impairment Severe global developmental delay Ataxia Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Broad nasal tip Premature thelarche Gastric ulcer Toe syndactyly Short sternum Palmoplantar keratoderma Abdominal pain Flat face Cleft upper lip Paresthesia Paraplegia Coarse facial features Aplasia of the uterus Rectal prolapse Glaucoma Carious teeth Intestinal malrotation Abnormality of the cerebral white matter Spastic paraplegia Camptodactyly of finger Abnormality of the eye Abnormality of the nervous system Deeply set eye Aggressive behavior Feeding difficulties in infancy Generalized hypertrichosis Synophrys Midface capillary hemangioma Thick eyebrow Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Absent radius Ectopic posterior pituitary Duodenal ulcer Intussusception Confusion Oligodactyly Aplasia/Hypoplasia of the thumb Chromosome breakage Facial hypertrichosis Anteriorly placed anus Absent thumb Hallux valgus Hypoplasia of the ulna Tracheoesophageal fistula Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Shallow orbits Choanal stenosis Recurrent hypoglycemia Ulnar bowing Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Aplasia of metacarpal bones Bilateral radial aplasia Flat forehead Urogenital fistula Abnormality of the carpal bones Hirsutism Osteosarcoma Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Oxycephaly Abnormal localization of kidney Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Hepatoblastoma Neoplasm of the liver Overgrowth Optic nerve dysplasia Short hallux Short distal phalanx of the 5th finger Prominent interphalangeal joints Cerebellar vermis hypoplasia Small nail Neurogenic bladder Thick lower lip vermilion Sparse scalp hair Long eyelashes Abnormal cortical bone morphology Mild global developmental delay Hypoplastic fifth fingernail Tall stature Preauricular skin tag Retinal dysplasia Low anterior hairline Increased body weight Horseshoe kidney Generalized hirsutism Hemangioma Elevated alkaline phosphatase Congenital diaphragmatic hernia Neoplasm Fragile nails Tetralogy of Fallot Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis 3-4 toe syndactyly Thin anteverted nares Tooth abscess Broad columella Abnormality iris morphology 4-5 finger syndactyly Narrow face Trichorrhexis nodosa Short middle phalanx of the 5th finger Eczema Dry hair Vertebral hyperostosis Low hanging columella Abnormality of the clavicle Cerebral calcification Bilateral ptosis Dislocated radial head Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Short 5th finger Brittle hair Wide nose Preaxial polydactyly Enlarged cisterna magna Reduced number of teeth Hyperostosis Abnormality of vision Spastic tetraparesis Severe expressive language delay Spastic paraparesis Paraparesis Lymphedema Tics Dental crowding Abnormal form of the vertebral bodies Tetraparesis Preaxial hand polydactyly Non-midline cleft lip Hypoparathyroidism Anonychia Narrow nose Median cleft lip Pain Macrocephaly External ear malformation Lumbosacral hirsutism Premature loss of teeth Precocious puberty Cutis marmorata Dilatation Abnormality of the ear Ectopic kidney Partial agenesis of the corpus callosum Recurrent infections Hyperactive deep tendon reflexes Abnormality of digit Curly hair Basal ganglia calcification Metaphyseal dysplasia Progressive spasticity Growth hormone deficiency Abnormality of the nose Incisional hernia Abnormal vertebral morphology Abnormality of the thorax Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Palpebral edema Hypoplastic nipples Aplasia cutis congenita Multiple lipomas Agenesis of permanent teeth Abnormality of the urinary system Absent nipple Cutaneous syndactyly Narrow palpebral fissure Type I diabetes mellitus Abnormality of the hair Hypohidrosis Recurrent urinary tract infections Renal agenesis Abnormality of the skin Nail dysplasia Iris coloboma Aplasia/Hypoplasia of the nipples Ureteral duplication Congenital cataract Ventriculomegaly Abnormality of the genitourinary system Hip dysplasia Tapered finger Short foot Small hand Postaxial polydactyly Smooth philtrum Pes cavus Cerebellar hypoplasia Long philtrum Duplication of renal pelvis Pyelonephritis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Dry skin Nail dystrophy Lower limb asymmetry Scrotal hypoplasia Kyphoscoliosis Hyperkeratosis Elevated serum creatine phosphokinase Myopathy Cardiomyopathy Sensorineural hearing impairment Broad femoral neck Obstructive sleep apnea Metaphyseal widening Retrognathia Pes planus Autism Gait ataxia Micropenis Unicoronal synostosis Cloverleaf skull Turricephaly Increased number of teeth Visual field defect Triphalangeal thumb Headache Osteopenia Muscular dystrophy Microtia Soft skin Coloboma Hyperhidrosis Hypertension Aortic rupture Abnormal eye morphology Arterial rupture High-frequency sensorineural hearing impairment Keloids Bladder diverticulum Follicular hyperkeratosis Atrophic scars Abnormality of the foot Difficulty climbing stairs Disproportionate tall stature Congenital muscular dystrophy Increased susceptibility to fractures Easy fatigability Poor head control Severe muscular hypotonia Sloping forehead Waddling gait Bruising susceptibility Abnormal cortical gyration Flared nostrils Short thumb Hyperammonemia Prematurely aged appearance Thin ribs Reduced subcutaneous adipose tissue Congenital glaucoma Neurodevelopmental delay Multiple joint contractures Mild short stature Athetosis Adducted thumb Opacification of the corneal stroma Severe intrauterine growth retardation Congenital hip dislocation Elbow flexion contracture Wide anterior fontanel Thin skin Triangular face Distal amyotrophy Thin vermilion border Abnormality of skin pigmentation Corneal opacity Difficulty walking Subcapsular cataract Severe failure to thrive Severe short stature Thrombocytopenia Bowing of the long bones Pancytopenia Lymphoma Polymicrogyria Malabsorption Broad forehead Prominent nasal bridge Skin rash Abnormal cardiac septum morphology Proptosis Anemia Progeroid facial appearance Prominent superficial blood vessels Hypoargininemia Polar cataract Corneal arcus Wide cranial sutures Dermal translucency Calcaneovalgus deformity Excessive wrinkled skin Overlapping fingers Premature skin wrinkling Macrotia Absent speech Abnormality of thyroid physiology Everted lower lip vermilion Widely spaced teeth Hypocalcemia Short ribs Short toe Hepatic fibrosis Omphalocele Limb undergrowth Ectodermal dysplasia Full cheeks Hypodontia Nephropathy Chronic kidney disease High, narrow palate Retinal dystrophy Hepatic failure Stage 5 chronic kidney disease Joint hyperflexibility Narrow chest Photophobia Congestive heart failure Hepatomegaly Unilateral breast hypoplasia Bicuspid aortic valve Radial deviation of finger Midface retrusion Thin nail Malar flattening Respiratory insufficiency Tremor Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Flattened epiphysis Abnormality of dental morphology Abnormality of the abdominal wall Hepatic cysts Abnormal toenail morphology Elevated serum creatinine Anodontia Tubulointerstitial nephritis Protuberant abdomen Prominent occiput Short thorax Thoracic hypoplasia Short distal phalanx of the 5th toe


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