Spasticity, and Iris coloboma

Diseases related with Spasticity and Iris coloboma

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

Medium match COLOBOMA OF IRIS


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Medium match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

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Other less relevant matches:

Medium match TRIPLE A SYNDROME


Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia|quaternary a syndrome|addisonian-achalasia syndrome|achalasia-addisonianism-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|2a syndrome|3a syndrome|adrenal insufficiency-achalasia-alac

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRIPLE A SYNDROME

Medium match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Medium match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Medium match MICROPHTHALMIA, LENZ TYPE


Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Top 5 symptoms//phenotypes associated to Spasticity and Iris coloboma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Coloboma Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Microphthalmia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Spasticity and Iris coloboma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Agenesis of corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Dilatation

Common Symptoms - More than 50% cases


Chorioretinal coloboma

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Short stature Ventriculomegaly Nystagmus Abnormal facial shape Cerebral atrophy Muscular hypotonia Ptosis Ventricular septal defect Visual impairment Cryptorchidism Cataract Low-set ears Hearing impairment Hyperreflexia Optic atrophy Intellectual disability, severe Hypoplasia of the corpus callosum Sensorineural hearing impairment Scoliosis Failure to thrive Strabismus Ataxia Abnormality of the nervous system Delayed speech and language development Motor delay Spastic diplegia Sclerocornea Frontal bossing Alopecia Autism Atrial septal defect Hydronephrosis Macrocephaly Corneal opacity Optic nerve coloboma Hypertelorism Hydrocephalus Abnormal heart morphology Microcornea Clinodactyly of the 5th finger Aplasia/Hypoplasia of the corpus callosum Long face Hypospadias

Rare Symptoms - Less than 30% cases


High palate Anal atresia Camptodactyly Feeding difficulties Highly arched eyebrow Muscle stiffness Pectus excavatum Intellectual disability, mild Skeletal muscle atrophy High, narrow palate Micrognathia Pes cavus Oral cleft Downslanted palpebral fissures Wide nasal bridge Anophthalmia Delayed eruption of teeth Renal hypoplasia Patent ductus arteriosus Intellectual disability, moderate Joint contracture of the hand Cerebellar hypoplasia Long philtrum Abnormality of the skeletal system Blindness Encephalopathy Behavioral abnormality Hypertension Spastic tetraparesis Tetraparesis Intellectual disability, profound Febrile seizures Glaucoma Neurological speech impairment Hypermetropia Prominent nose Postnatal growth retardation Aganglionic megacolon Hypertonia Weight loss Dental crowding Neoplasm Hepatomegaly Spastic tetraplegia Tetraplegia Absent speech Autistic behavior Aortic aneurysm Skeletal dysplasia Abnormal aortic morphology Rigidity Glioma Abnormal anterior chamber morphology Paralysis Visceral angiomatosis Cerebral cortical atrophy Interrupted aortic arch Alopecia areata Scleral staphyloma Subcortical cerebral atrophy Neoplasm of the skeletal system Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Lens luxation Osteochondrosis Odontoma Neurodevelopmental abnormality Pelvic kidney Posterior staphyloma Chorioretinitis Hemiatrophy Subcutaneous lipoma Tricuspid valve prolapse Epibulbar dermoid Abnormal nasolacrimal system morphology Lop ear Short 2nd toe Porencephalic cyst Aortic valve stenosis Scarring Hemiplegia Absent septum pellucidum Multiple lipomas Cortical dysplasia Hypotrichosis Dysphasia Aphasia Lipodystrophy Nevus Mutism Aplasia cutis congenita Hemangioma Sacral dimple Dandy-Walker malformation Osteolysis Cerebral calcification Coarctation of aorta Pulmonary arterial hypertension Hemiparesis Abnormality of the face Hamartoma Hypoplasia of the iris Retinopathy Ectopia pupillae Subcutaneous nodule Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Craniofacial hyperostosis Astrocytoma Xanthomatosis Hemihypertrophy Echolalia Dysostosis multiplex Lipoma Eyelid coloboma Abnormal eyelid morphology Papule Skin tags Capillary hemangioma Abnormality of the skull Arachnoid cyst Abnormal eyelash morphology Nevus flammeus Bone cyst Self-injurious behavior Abnormality of the dentition Short philtrum Situs inversus totalis Abnormality of the ribs Tetralogy of Fallot Decreased testicular size Triangular face Hypoplasia of the maxilla Bulbous nose Arachnodactyly Paraplegia Spastic paraplegia Sparse hair Narrow face Joint stiffness Protruding ear Anxiety Thin upper lip vermilion Macrotia Mandibular prognathia Narrow mouth Brachycephaly Diabetes mellitus Upslanted palpebral fissure Abnormality of the hair Cachexia Malar flattening Abnormality of the rib cage Decreased head circumference Narrow foot Round ear Phimosis Moderately short stature Macrodontia Anteverted ears Broad columella Thin eyebrow Heterotaxy Small face Poor suck Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Mild short stature Cupped ear Failure to thrive in infancy Nasal speech Severe short stature Intrauterine growth retardation Kyphosis Toe syndactyly Renal hypoplasia/aplasia Bicuspid aortic valve Preauricular skin tag Recurrent otitis media Lumbar hyperlordosis Wide intermamillary distance Webbed neck Brain atrophy Pulmonary hypoplasia Cleft upper lip Narrow chest Colpocephaly Finger syndactyly Camptodactyly of finger Abnormality of the pinna Hyperlordosis Low-set, posteriorly rotated ears Aggressive behavior Kyphoscoliosis Clinodactyly Abnormality of cardiovascular system morphology Syndactyly Pyloric stenosis Overfolded helix Epicanthus Misalignment of teeth Cleft palate Ciliary body coloboma Agenesis of maxillary lateral incisor Abnormal palmar dermatoglyphics Complete duplication of thumb phalanx Long thorax Abnormality of the shoulder Ankyloblepharon Rectal prolapse Shield chest Down-sloping shoulders Clubbing Abnormality of the clavicle Self-mutilation External ear malformation Short clavicles Agenesis of permanent teeth Hydroureter Bilateral cryptorchidism Radial deviation of finger Abnormality of dental morphology Proximal placement of thumb Short upper lip Multiple impacted teeth Profound global developmental delay Generalized hyperpigmentation Plantar hyperkeratosis Alacrima Decreased circulating aldosterone level Anterior hypopituitarism Decreased circulating cortisol level Achalasia Motor axonal neuropathy Abnormality of visual evoked potentials Primary adrenal insufficiency Orthostatic hypotension Abnormality of the calf musculature Ectopic kidney Adrenal insufficiency Oral-pharyngeal dysphagia Palmoplantar hyperkeratosis Abnormal autonomic nervous system physiology Hyperpigmentation of the skin Hypotension Parkinsonism Palmoplantar keratoderma Anisocoria Abnormality of the hypothenar eminence Neurodegeneration Abnormality of the eye Nephropathy Retinal dystrophy Cirrhosis Stage 5 chronic kidney disease Abnormality of eye movement Prominent nasal bridge Abnormality of the liver Wide mouth Feeding difficulties in infancy Abnormality of the kidney Adrenocorticotropin receptor defect Apnea Elevated hepatic transaminase Polydactyly Inguinal hernia Renal insufficiency Splenomegaly Anteverted nares Gait disturbance Tremor Polyneuropathy Tachycardia Round face Peters anomaly Lethargy Hyperactivity Pneumonia Thrombocytopenia Diarrhea Fever Optic nerve aplasia Morning glory anomaly Remnants of the hyaloid vascular system Increased intraocular pressure Leukopenia Vesicoureteral reflux Reduced visual acuity Delayed ability to walk Poor eye contact CNS hypomyelination Hypsarrhythmia Epileptic encephalopathy Inability to walk Cerebellar atrophy Aspiration Delayed gross motor development Peripheral axonal neuropathy Fatigue Developmental regression Hypoglycemia Hyperkeratosis Hyperhidrosis Dementia Babinski sign Arrhythmia Respiratory insufficiency Dysphagia Dysarthria Breast carcinoma Peripheral neuropathy Cognitive impairment Muscle weakness Uraciluria Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Stomatitis Diffuse cerebral atrophy Aspiration pneumonia Hypoventilation Renal cyst Intestinal malrotation Hypoplasia of teeth Absent gallbladder Congestive heart failure Talipes equinovarus Myopia Brachydactyly Depressed nasal bridge Proximal esophageal atresia Cervical hemivertebrae Glandular hypospadias Hypothalamic hamartoma Vertebral hypoplasia Coarse facial features Supernumerary ribs Anterior pituitary hypoplasia Butterfly vertebrae Periventricular leukomalacia Gonadotropin deficiency Rib fusion 11 pairs of ribs Missing ribs Esophageal atresia Gait ataxia Pes planus Vertebral fusion Short toe Neurogenic bladder Congenital nystagmus Bowing of the legs Unilateral renal agenesis Relative macrocephaly Genu varum Abnormal palate morphology Aortic regurgitation Short chin Thick lower lip vermilion Telecanthus Bilateral sensorineural hearing impairment Progressive visual loss Convex nasal ridge Renal agenesis Esotropia Joint hyperflexibility Facial asymmetry Dolichocephaly Hip dislocation Mental deterioration Increased number of teeth Tracheoesophageal fistula Gastrointestinal hemorrhage Aplasia/Hypoplasia of the cerebellum Cholestatic liver disease Esophageal varix Neoplasm of the liver Abnormality of abdomen morphology Biparietal narrowing Occipital encephalocele Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Portal hypertension Congenital hepatic fibrosis Chronic kidney disease Oculomotor apraxia Multicystic kidney dysplasia Hepatic fibrosis Encephalocele Cholestasis Cerebellar vermis hypoplasia Apraxia Postaxial hand polydactyly Abnormality of the hypothalamus-pituitary axis Abnormal pattern of respiration Patent foramen ovale Growth hormone deficiency Optic nerve hypoplasia Holoprosencephaly Hemivertebrae Hypogonadotrophic hypogonadism Abnormal vertebral morphology Heterotopia Abnormality of the genital system Hypoplasia of penis Specific learning disability Single transverse palmar crease Aplasia/Hypoplasia of the cerebellar vermis Congenital cataract Facial palsy Micropenis Hypogonadism Posteriorly rotated ears Visual loss Midface retrusion Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Abnormal hair laboratory examination



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