Pain, and Microphthalmia

Diseases related with Pain and Microphthalmia

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


Top matches:

Low match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

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Other less relevant matches:

Low match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Low match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Low match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Low match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Top 5 symptoms//phenotypes associated to Pain and Microphthalmia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Pain and Microphthalmia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Glaucoma

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Downslanted palpebral fissures Cleft palate Ptosis Muscular hypotonia Wide nasal bridge Cryptorchidism Nystagmus Abnormal facial shape Hypertelorism Strabismus Micrognathia Visual loss Coloboma Attention deficit hyperactivity disorder Telecanthus Blindness High palate Intellectual disability, mild Atrial septal defect Neoplasm Hypertonia Agenesis of corpus callosum Amblyopia Macrotia Hypoplasia of the corpus callosum Anteverted nares Rigidity Gangrene Arachnodactyly Falls Retinal detachment Myopia Exotropia Cleft upper lip Mandibular prognathia Vesicoureteral reflux Syndactyly Frontal bossing Sloping forehead Pointed chin External ear malformation Underdeveloped supraorbital ridges Polycystic kidney dysplasia Corneal opacity Muscle stiffness Retrognathia Abnormality of cardiovascular system morphology Dilatation Generalized hypotonia Spasticity Optic atrophy Long philtrum Upslanted palpebral fissure Iris coloboma Anophthalmia Growth delay Specific learning disability Ataxia Kyphoscoliosis Intrauterine growth retardation Ventriculomegaly Abnormality of the dentition Microcornea Motor delay Talipes equinovarus Scoliosis Hydrocephalus

Rare Symptoms - Less than 30% cases


Tetralogy of Fallot Brachydactyly Malar flattening Short neck Spina bifida Cerebral cortical atrophy Hypogonadism Thrombocytopenia Behavioral abnormality Camptodactyly of finger Myalgia Cerebral calcification Panniculitis Congenital cataract Edema Hypospadias Severe short stature Depressivity Abnormality of the eye Protruding ear Low hanging columella Leukemia Dry skin Wide nose Intellectual disability, severe Chorioretinal dysplasia Posteriorly rotated ears Abnormality of the skeletal system Aplasia/Hypoplasia of the cerebellum Cupped ear Aplasia/Hypoplasia of the corpus callosum Ectopic kidney Kyphosis Aganglionic megacolon Hemangioma Basal cell carcinoma Melanocytic nevus Coarctation of aorta Hemiparesis Prominent nasal tip Failure to thrive Brachycephaly Tremor Fever Hypotrichosis Finger syndactyly Prominent nasal bridge Sparse hair Ventricular septal defect Paralysis Postnatal growth retardation Thick vermilion border Polyhydramnios Proptosis Retinal dystrophy Retinopathy Full cheeks Hypogonadotrophic hypogonadism Anxiety Abnormal eyelash morphology EEG abnormality Intestinal malrotation Lymphoma Hypothyroidism Reduced visual acuity Abnormal eyelid morphology Abnormal toenail morphology Carcinoma Hyperactivity Retinal dysplasia Abnormality of the kidney Cellulitis Long face Carious teeth Depressed nasal bridge Facial palsy Conductive hearing impairment Short philtrum Genu recurvatum Sensorineural hearing impairment Melanonychia Leukonychia Chylothorax Abnormal nasolacrimal system morphology Erysipelas Bilateral sensorineural hearing impairment High forehead Renal hypoplasia Venous thrombosis Overgrowth Lymphedema Skin ulcer Hydronephrosis Bilateral ptosis Abnormality of retinal pigmentation Optic nerve hypoplasia Opacification of the corneal stroma Patent ductus arteriosus Constipation Thickened skin Subcutaneous nodule Status epilepticus Nevus Abnormality of vision Renal dysplasia Pectus excavatum Scaling skin Hypopigmentation of the skin Choanal atresia Dandy-Walker malformation Medulloblastoma Brain neoplasm Astrocytoma Broad face Orbital cyst Ulcerative colitis Ectopic calcification Abnormality of the sense of smell Palmar pits Supernumerary ribs Cervical ribs Hamartomatous polyposis Fibroma Multiple impacted teeth Ovarian carcinoma Short distal phalanx of the thumb Hypoplasia of the cochlea Parietal bossing Cochlear malformation Renal steatosis Vertebral wedging Severe hydrocephalus Neoplasm of the endocrine system Lacrimal duct aplasia Abnormality of the neck Gustatory lacrimation Abnormality of the cerebrum Hyperpigmentation of the skin Abnormality of the ribs Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Cholesteatoma Enlarged cochlear aqueduct Hypotension Dysarthria Bradycardia Macrocephaly Abdominal pain Polydactyly Coarse facial features Proteinuria Cleft lip Papule Oral cleft Postaxial polydactyly Palmoplantar keratoderma Abnormality of the renal collecting system Short ribs Short 4th metacarpal Long fingers Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Milia Euthyroid goiter Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Bilateral renal dysplasia Unilateral renal hypoplasia Hemivertebrae Calcification of falx cerebri Nasal speech Histiocytoma Exudative vitreoretinopathy Cortical gyral simplification Chorioretinal atrophy Vitreoretinopathy Retinal fold Congenital microcephaly Retinal thinning Myopic astigmatism Flat occiput Chorioretinal lacunae Hyperreflexia Hepatomegaly Alopecia Osteopenia Abnormality of the nervous system Agitation Patent foramen ovale Facial asymmetry Neonatal hypotonia Multiple suture craniosynostosis Tricuspid atresia Abnormality of the tonsils Occipital myelomeningocele Prominent forehead Thin upper lip vermilion Aggressive behavior Deep philtrum Hypermetropia Astigmatism Sleep disturbance Broad nasal tip Pigmentary retinopathy Thick lower lip vermilion Ophthalmoplegia Talipes Hypertensive crisis Cranial asymmetry Hypophosphatemic rickets Porencephalic cyst Cavernous hemangioma Asymmetric growth Adenoma sebaceum Abnormality of dental color Hemimegalencephaly Hemihypertrophy Epidermal nevus Nevus sebaceous Abnormality of toe Odontoma Odontogenic neoplasm Linear nevus sebaceous Hyperphosphaturia Abnormality of finger Ichthyosis Precocious puberty Recurrent fractures Generalized muscle weakness Pachygyria Horseshoe kidney Plagiocephaly Reduced tendon reflexes Rickets Dilatation of the cerebral artery Abnormality of dental morphology Prominent occiput Vertebral segmentation defect Neurofibromas Biparietal narrowing Osteomalacia Irregular hyperpigmentation Abnormal aortic arch morphology Retinal arteriolar tortuosity Curved fingers Asthma Arthritis Feeding difficulties in infancy Autoimmunity Joint hyperflexibility Anal atresia Bulbous nose Gastrointestinal hemorrhage Gastroesophageal reflux Hypocalcemia Abnormality of dental enamel Purpura Hypopigmented skin patches Schizophrenia Laryngomalacia Umbilical hernia Narrow mouth Cholelithiasis Cardiac fibroma Bifid ribs Cardiac rhabdomyoma Odontogenic keratocysts of the jaw Ovarian fibroma Plantar pits Bridged sella turcica Irregular ossification of hand bones Autism Hamartomatous stomach polyps Low-set ears Splenomegaly Immunodeficiency Obesity Inguinal hernia Branchial fistula Hand polydactyly Anorectal anomaly Abnormal thrombocyte morphology Chronic obstructive pulmonary disease Abnormality of the uterus Corneal neovascularization Tetany Hypoplasia of the thymus Seborrheic dermatitis Abnormal aortic valve morphology Varicose veins Abnormality of the pharynx Small earlobe Platybasia Arrhinencephaly Impaired T cell function Abnormal pulmonary valve morphology Atelectasis Truncus arteriosus Abnormality of the thorax Foot polydactyly Overfolded helix Chronic otitis media Acne Dysphasia Bowel incontinence Hyperthyroidism Posterior embryotoxon Meningocele Abnormal lung lobation Bipolar affective disorder Turricephaly Hypoparathyroidism Patellar dislocation Multiple renal cysts Abnormality of the skull Renal malrotation Uplifted earlobe Arteria lusoria Ocular pain Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Decreased light- and dark-adapted electroretinogram amplitude Flexion contracture Peters anomaly Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Increased proinsulin:insulin ratio Congestive heart failure Ectopia lentis Sandal gap Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Short femoral neck Radial deviation of finger Proximal placement of thumb Clitoral hypertrophy Radioulnar synostosis Hypoplasia of the radius Melanoma Wormian bones Clinodactyly Knee flexion contracture Bilateral single transverse palmar creases Aortic valve stenosis Short thumb Bowing of the long bones Myocardial infarction Blue sclerae Underdeveloped nasal alae Premature birth Chest pain Craniosynostosis Clinodactyly of the 5th finger Nephroblastoma Anosmia Severe intrauterine growth retardation Sensory neuropathy Hypergonadotropic hypogonadism Long eyelashes Split hand Primary amenorrhea Intention tremor Interphalangeal joint contracture of finger Amenorrhea Peripheral demyelination Decreased testicular size Chorea Polyneuropathy Small hand Postural tremor Paresthesia Dysmetria Abnormal pyramidal sign Proximal muscle weakness Hypoglycemia Osteoporosis Pes cavus Babinski sign Cerebral atrophy Peripheral neuropathy Cognitive impairment Muscle weakness CNS hypomyelination Decreased motor nerve conduction velocity Narrow palate Acute rhabdomyolysis Type I diabetes mellitus Dental crowding Recurrent urinary tract infections Polymicrogyria Smooth philtrum Intellectual disability, moderate Muscular hypotonia of the trunk Gait ataxia Micropenis Diabetes mellitus Peripheral hypomyelination Upper limb postural tremor Axonal degeneration Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Decreased serum estradiol Motor axonal neuropathy Malignant hyperthermia Myoglobinuria Axonal loss Rhabdomyolysis Secondary amenorrhea Synostosis of carpal bones Upper limb undergrowth Branchial cyst Deep plantar creases Abnormality of the optic nerve Pleural effusion Abnormality of the hair Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Atypical absence seizures Happy demeanor Subglottic stenosis Renal insufficiency Broad eyebrow Esodeviation Broad columella Broad hallux phalanx Large earlobe Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Abnormal eyebrow morphology Pulmonary artery stenosis Dysphagia Abnormality of the pinna Submucous cleft hard palate Epiphora Body odor Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal Mixed hearing impairment Premature graying of hair Preauricular pit Atresia of the external auditory canal Microtia Renal hypoplasia/aplasia Multicystic kidney dysplasia Congenital hip dislocation Narrow face Preauricular skin tag Atrial fibrillation Oligohydramnios Microdontia Renal agenesis Bifid uvula Pulmonary hypoplasia Flat face Drowsiness Supernumerary nipple Capillary hemangioma Mesomelic arm shortening Pectus carinatum Abnormal cardiac septum morphology Deeply set eye Abnormal heart morphology Absent speech Short nose Diarrhea Vomiting Premature separation of centromeric heterochromatin Midface capillary hemangioma Tetraphocomelia Progressive flexion contractures Abnormality of the cerebral white matter Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Aplasia of the ulna Wrist flexion contracture Humeroradial synostosis Phocomelia Long penis Subvalvular aortic stenosis Patellar aplasia Abnormality of the upper limb Fair hair Neurological speech impairment Pulmonic stenosis Hallux valgus Abnormality of the genital system Rocker bottom foot Bifid scrotum Sparse eyebrow Pyloric stenosis Poor suck Abnormality of the genitourinary system Drooling Widely spaced teeth Cutaneous syndactyly Absence seizures Postnatal microcephaly Recurrent otitis media Everted lower lip vermilion Open mouth Sparse scalp hair Fine hair Dehydration Febrile seizures Focal-onset seizure Otitis media Esotropia Brain atrophy Abdominal distention Delayed eruption of teeth Tapered finger Nevus sebaceus



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