Delayed speech and language development, and Corneal opacity

Diseases related with Delayed speech and language development and Corneal opacity

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Corneal opacity that can help you solving undiagnosed cases.


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Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia


SOURCES: MONDO UMLS OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Low match TYROSINEMIA, TYPE II; TYRSN2

Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).

TYROSINEMIA, TYPE II; TYRSN2 Is also known as richner-hanhart syndrome, tyrosine aminotransferase deficiency, tat deficiency, tyrosine transaminase deficiency, keratosis palmoplantaris with corneal dystrophy, oregon type tyrosinemia, tyrosinosis, oculocutaneous type;keratosis palmoplantaris-corneal dystrophy syndrome; oculocutaneous tyrosinemia; richner-hanhart syndrome; tyrosinemia due to tat deficiency; tyrosinemia due to tyrosine aminotransferase deficiency; tyrosinemia type ii

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • Microcephaly


SOURCES: NCIT DOID MONDO OMIM GARD SCTID ORPHANET

More info about TYROSINEMIA, TYPE II; TYRSN2

Low match GM1-GANGLIOSIDOSIS, TYPE III

GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (OMIM ). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).

GM1-GANGLIOSIDOSIS, TYPE III Is also known as gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type, gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3;adult-onset gm1 gangliosidosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis


SOURCES: OMIM GARD UMLS SCTID ORPHANET MONDO

More info about GM1-GANGLIOSIDOSIS, TYPE III

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Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia, sanfilippo syndrome a, heparan sulfate sulfatase deficiency, sulfamidase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM NCIT

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID

More info about GILLESPIE SYNDROME; GLSP

Low match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

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).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Low match MUCOLIPIDOSIS IV; ML4

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv, sialolipidosis;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET NCIT SCTID GARD ICD10 MONDO

More info about MUCOLIPIDOSIS IV; ML4

Low match SHORT SYNDROME

'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers.Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome.

SHORT SYNDROME Is also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, lipodystrophy, partial, with rieger anomaly and short stature;aarskog-ose-pande syndrome; lipodystrophy-rieger anomaly-diabetes syndrome; rieger anomaly-partial lipodystrophy syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM GARD ORPHANET UMLS MESH MONDO

More info about SHORT SYNDROME

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as mps iiid, sanfilippo syndrome d, n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: ORPHANET OMIM

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

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; ECCL Is also known as ;haberland syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Corneal opacity

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

Patients with Delayed speech and language development and Corneal opacity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cataract Myopia Behavioral abnormality Nystagmus Absent speech Neurological speech impairment Pica Hypoplasia of the corpus callosum Hearing impairment Dysostosis multiplex Coarse facial features Microcephaly Splenomegaly Cerebral cortical atrophy Abnormality of the face Malar flattening Tremor Spasticity Synophrys Hypertonia Hypoplasia of the iris Dysarthria Anteverted nares Visual impairment Opacification of the corneal stroma Intellectual disability, severe Generalized hypotonia Microdontia Muscular hypotonia Macrocephaly

Rare Symptoms - Less than 30% cases


Underdeveloped nasal alae Motor delay Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Skeletal dysplasia Growth abnormality Recurrent upper respiratory tract infections Coarse hair Retinopathy Hirsutism Sleep disturbance Developmental regression Nevus Frontal bossing Joint stiffness Hyperactivity Failure to thrive Diarrhea Hepatomegaly Visceromegaly Slurred speech Inguinal hernia Alopecia Optic atrophy Abnormal nasal morphology Abnormal anterior chamber morphology Umbilical hernia Abnormality of the genital system Dental malocclusion Thin skin Hypertrichosis Hernia Sacral dimple Lipodystrophy Short chin Excessive wrinkled skin Prominent forehead Wide mouth Flexion contracture Micrognathia Hypertelorism Autosomal dominant inheritance Oxycephaly Abnormal facial shape Craniofacial hyperostosis Coloboma Reduced visual acuity Cerebellar hypoplasia Cerebral atrophy Cerebellar atrophy Depressed nasal bridge Ovoid thoracolumbar vertebrae Growth delay Cognitive impairment Dilatation Abnormality of the skin Glaucoma Dystonia High myopia Intellectual disability, mild Cerebral calcification Scoliosis Microphthalmia Short stature Retinal dystrophy Acrania Abnormality of the cerebral white matter Ranula Papule Hypoplasia of the maxilla Palmoplantar keratoderma Photophobia Rigidity Coma Ventriculomegaly Infantile onset Hydrocephalus Insulin resistance Epibulbar dermoid Congenital hip dislocation Neoplasm of the skeletal system Hemiatrophy Posterior embryotoxon Alopecia areata Abnormality of dental enamel Abnormal pupil morphology Nephrocalcinosis Premature skin wrinkling Calcinosis Increased intraocular pressure Dimple chin Radial deviation of finger Insulin-resistant diabetes mellitus Poor appetite Prominent supraorbital ridges Megalocornea Increased body weight Congenital glaucoma Lipoatrophy Subcortical cerebral atrophy Hyperglycemia Glucose intolerance Pelvic kidney Somatic mosaicism Abnormality of the immune system Chorioretinitis Reduced subcutaneous adipose tissue Hypotrichosis Cortical dysplasia Bilateral sensorineural hearing impairment Sensorineural hearing impairment Delayed skeletal maturation Midface retrusion Abnormality of the dentition Wide nasal bridge Intrauterine growth retardation Brachydactyly Milia Abnormal cartilage morphology Linear hyperpigmentation Abnormality of mucopolysaccharide metabolism Abnormality of ganglioside metabolism Truncal titubation Oligosacchariduria Progressive psychomotor deterioration Hoarse cry Cerebral dysmyelination Dysplastic corpus callosum Depressivity Clinodactyly Hypodontia Small for gestational age Microcornea Triangular face Delayed eruption of teeth Joint hypermobility Downturned corners of mouth Tricuspid valve prolapse Joint hyperflexibility Hip dislocation Neurodevelopmental abnormality Severe short stature Deeply set eye Weight loss Joint laxity Telecanthus Abnormal heart morphology Macrotia Osteochondrosis Diabetes mellitus Short palm Abnormal aortic morphology Abnormal cornea morphology Echolalia Scarring Abnormality of the skull Capillary hemangioma Paralysis Tetraplegia Abnormal eyelid morphology Sclerocornea Xanthomatosis Glioma Iris coloboma Sporadic Hydronephrosis Agenesis of corpus callosum Atrial septal defect Nevus flammeus Astrocytoma Ectopia pupillae Eyelid coloboma Coarctation of aorta Titubation Hemiplegia Aplasia cutis congenita Aphasia Dysphasia Arachnoid cyst Multiple lipomas Muscle stiffness Hamartoma Lipoma Mutism Subcutaneous nodule Hemangioma Osteolysis Hemiparesis Abnormality of the eyelashes Aortic valve stenosis Dandy-Walker malformation Pulmonary arterial hypertension Intellectual disability, profound Skin tags Ventricular septal defect Rieger anomaly Abnormality of the zygomatic bone Malabsorption Genu valgum Difficulty walking Aggressive behavior Progressive Dysphagia Short neck Low-set ears Hypoplastic facial bones Abnormality of the ribs Abnormality of the mandible Enlarged epiphyses Visceral angiomatosis Interrupted aortic arch Absent septum pellucidum Subcutaneous lipoma Abnormal nasolacrimal system morphology Birth length less than 3rd percentile Thick eyebrow Thick lower lip vermilion Hemihypertrophy Vocal cord paresis Neoplasm Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Cryptorchidism Bone cyst Porencephalic cyst Aplasia cutis congenita of scalp Cellular metachromasia Mucopolysacchariduria Hip dysplasia Abnormality of the clavicle Chronic otitis media Progressive hearing impairment Drooling Intellectual disability, progressive Generalized hirsutism Chronic diarrhea Abnormal form of the vertebral bodies Esodeviation Hypoplastic nipples Decreased light- and dark-adapted electroretinogram amplitude Angiokeratoma Pneumonia Tics Dysplasia of the femoral head Decreased beta-galactosidase activity Anterior beaking of lumbar vertebrae Stuttering Hypoplastic acetabulae Facial grimacing Split hand Foam cells Flared iliac wings Diffuse cerebral atrophy Loss of speech Generalized dystonia Progressive spasticity Hyperactive deep tendon reflexes Abnormality of blood and blood-forming tissues Dementia Progressive neurologic deterioration Spastic tetraparesis Abnormality of movement Low anterior hairline Apraxia Hypopigmentation of the skin Abnormal cerebellum morphology High, narrow palate Unsteady gait Pulmonic stenosis Facial asymmetry Congenital cataract Limb ataxia Muscular hypotonia of the trunk Mandibular prognathia Gait ataxia Downslanted palpebral fissures Ptosis Dense calvaria Restlessness Thickened calvaria Generalized amyotrophy Athetosis Postural tremor Poor head control Hyperkeratosis Visual loss Acidosis Pain Renal cortical cysts Buphthalmos Cerebellar cyst Holoprosencephaly Infertility Lissencephaly Leukodystrophy Cerebellar vermis hypoplasia Polymicrogyria Muscular dystrophy Respiratory failure Elevated serum creatine phosphokinase Myopathy Hyperhidrosis Abnormality of the nail Tetraparesis Pes cavus Intention tremor Urinary incontinence Chorea Parkinsonism Platyspondyly Clonus Mental deterioration Myoclonus Kyphosis Keratitis Skeletal muscle atrophy Herpetiform corneal ulceration 4-Hydroxyphenylpyruvic aciduria White papule Abnormality of amino acid metabolism Hypertyrosinemia Corneal ulceration Male infertility Involuntary movements Mask-like facies Aplasia/Hypoplasia of the abdominal wall musculature Cryptophthalmos Strabismus Long uvula Ventral hernia Hypoplasia of eyelid Microtia, third degree Ablepharon Absent hair Abnormality of female external genitalia Gait disturbance Short upper lip Absent nipple Overbite Conical tooth Breast hypoplasia High-frequency hearing impairment Labial hypoplasia Aplasia/Hypoplasia of the nipples Hyperreflexia Babinski sign Abnormality of finger Biparietal narrowing Developmental stagnation Motor deterioration Severe visual impairment Genu recurvatum Increased serum ferritin Palpebral edema Abnormality of abdomen morphology Gout Aspiration EEG abnormality Abnormal electroretinogram Abnormality of retinal pigmentation Spastic tetraplegia Esotropia Everted lower lip vermilion Retinal degeneration Abnormality of the nervous system Hepatosplenomegaly Abnormal hair pattern Absent eyelashes Bilateral ptosis Craniofacial asymmetry Sparse hair Finger syndactyly Abnormality of the pinna Camptodactyly of finger Syndactyly Short nose Talipes equinovarus Frontal cortical atrophy Mydriasis Microtia Abnormality of the pulmonary artery Scanning speech Hyperconvex nail Broad distal phalanx of finger Speech apraxia Hypoplasia of the fovea Aniridia Hearing abnormality Camptodactyly Toe syndactyly Hypoplasia of the zygomatic bone Atresia of the external auditory canal Corneal erosion Shallow orbits Abnormality of the mouth Absent eyebrow Sparse eyebrow Cutaneous syndactyly Ectropion Abnormality of the outer ear Redundant skin Thin vermilion border Cutis laxa Omphalocele Fine hair Ambiguous genitalia Hypoplasia of penis Short metacarpal Abnormality of skin pigmentation Dry skin Lipomas of the central neryous system


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