Delayed speech and language development, and Retinal detachment

Diseases related with Delayed speech and language development and Retinal detachment

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


Top matches:

Medium match CATARACT 21, MULTIPLE TYPES; CTRCT21

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract 21, multiple types, with or without microcornea, cataract, congenital, cerulean type, 4;cca4, cataract, pulverulent, juvenile-onset

Related symptoms:

  • Autosomal dominant inheritance
  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia


SOURCES: UMLS OMIM DOID MONDO MESH

More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as ceroid lipofuscinosis, neuronal, 2, variable age at onset, jansky-bielschowsky disease

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Pica
  • Ataxia
  • Visual impairment


SOURCES: OMIM

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Low match ADAMS-OLIVER SYNDROME 2; AOS2

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about ADAMS-OLIVER SYNDROME 2; AOS2

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Other less relevant matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).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, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy

Related symptoms:

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


SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

Low match SMITH-MAGENIS SYNDROME; SMS

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM NCIT MONDO GARD ICD10 DOID

More info about SMITH-MAGENIS SYNDROME; SMS

Low match SMITH-MAGENIS SYNDROME

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: SCTID ORPHANET

More info about SMITH-MAGENIS SYNDROME

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Visual impairment


SOURCES: OMIM UMLS MONDO

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Low match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Abnormal facial shape


SOURCES: DOID UMLS MONDO OMIM

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). 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 Stevens et al., 2013).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, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Spasticity


SOURCES: OMIM UMLS MONDO

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Low match NANCE-HORAN SYNDROME; NHS

Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).

NANCE-HORAN SYNDROME; NHS Is also known as cataract-dental syndrome, cataract, x-linked, with hutchinsonian teeth, mesiodens-cataract syndrome;

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: OMIM MONDO GARD MESH UMLS SCTID DOID ORPHANET

More info about NANCE-HORAN SYNDROME; NHS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Retinal detachment

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Strabismus Ventriculomegaly Cataract Microcornea Myopia Congenital cataract Generalized hypotonia EEG abnormality Brachydactyly Blindness Optic atrophy Scoliosis Nystagmus Microcephaly Mandibular prognathia Hydrocephalus Cerebellar hypoplasia Brachycephaly Cerebellar cyst Polymicrogyria

Rare Symptoms - Less than 30% cases


Dilatation Hypoplasia of the corpus callosum Depressed nasal bridge Macrocephaly Intrauterine growth retardation Reduced visual acuity Synophrys Flexion contracture Sleep disturbance Stereotypy Agenesis of corpus callosum Impaired pain sensation Abnormal tracheobronchial morphology Hyperacusis Gait disturbance Retinal fold Elevated serum creatine phosphokinase Mania Areflexia Glaucoma Self-injurious behavior Esotropia Muscular dystrophy Hypercholesterolemia Hoarse voice Motor delay Abnormality of the nervous system Protruding ear Muscular hypotonia of the trunk Abnormal heart morphology Hypertriglyceridemia Spasticity Autosomal dominant inheritance Muscular hypotonia Retinal dysplasia Behavioral abnormality Visual loss Abnormality of cardiovascular system morphology Micrognathia Encephalopathy Cerebral atrophy Wide nasal bridge Pica Peripheral neuropathy Hyporeflexia Cerebellar dysplasia Type II lissencephaly Cleft palate Nuclear cataract Iris coloboma Short stature Coloboma Autism Atrial septal defect Midface retrusion Abnormality of the dentition Obesity Lissencephaly Macrotia Conductive hearing impairment Aplasia/Hypoplasia of the corpus callosum Intellectual disability, moderate Pes planus Optic nerve hypoplasia Deeply set eye Hypertelorism Constipation Growth delay Velopharyngeal insufficiency Sporadic Recurrent ear infections Everted upper lip vermilion Broad face Abnormality of the larynx Microtia Self-mutilation Hearing impairment Abnormality of the kidney Pain Dry skin Pes cavus Clinodactyly Hypoplasia of dental enamel Abnormality of the genital system Malar flattening Hyperactivity Short palm Oral cleft Abnormality of the urinary system Abnormality of the outer ear Abnormality of the immune system Broad palm Abnormality of the thyroid gland Abnormal renal morphology Premature atrial contractions Abnormal form of the vertebral bodies Morphological abnormality of the middle ear Long face Pendular nystagmus Abnormal facial shape Downslanted palpebral fissures Congenital onset Retrognathia Retinal atrophy Chorioretinal atrophy Congenital microcephaly Chorioretinal dysplasia Trophic changes related to pain Leukoencephalopathy Severe muscular hypotonia Hypoplasia of the pons Prominent nasal bridge Short metacarpal Chorioretinal coloboma Prominent nose X-linked dominant inheritance Short phalanx of finger Narrow face Widely spaced teeth Hypophosphatemia Increased number of teeth Severe visual impairment Diastema Broad finger Sutural cataract Mesiodens Posterior Y-sutural cataract Supernumerary maxillary incisor Retinal coloboma Corticospinal tract hypoplasia Abnormality of the forearm Broad forehead Head-banging Frontal bossing Anteverted nares Short nose Clinodactyly of the 5th finger Upslanted palpebral fissure Hypothyroidism Gastroesophageal reflux Feeding difficulties in infancy Joint stiffness Anxiety Short philtrum Attention deficit hyperactivity disorder Neurological speech impairment Toe syndactyly Delayed eruption of primary teeth Tented upper lip vermilion Large face Abnormal localization of kidney Taurodontia Abnormality of the ureter Failure to thrive in infancy Chronic otitis media Precocious puberty Delayed puberty Hand polydactyly Renal hypoplasia/aplasia Open mouth Hypoplasia of the pyramidal tract Decreased fetal movement Cleft upper lip Hypoglycosylation of alpha-dystroglycan EMG abnormality Thoracic hemivertebrae Short foot Increased extraneuronal autofluorescent lipopigment Low-set ears Epicanthus Nevus Edema Hypertonia Syndactyly Depressivity Polyhydramnios Posteriorly rotated ears Alopecia Bulbous nose Short distal phalanx of finger Single transverse palmar crease Mitochondrial encephalopathy Gliosis Wide intermamillary distance Oligohydramnios Blue sclerae Small nail Lymphedema Low anterior hairline Wide anterior fontanel Cerebral palsy Dermal atrophy Short finger Narrow palpebral fissure Cutis marmorata Abnormal nervous system electrophysiology Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Corpus callosum atrophy Mental deterioration Autistic behavior Bifid uvula Polar cataract Posterior polar cataract Lamellar cataract Macular hypoplasia Cerulean cataract Cortical pulverulent cataract Ataxia Rod-cone dystrophy Myoclonus Dementia Retinopathy Clonus Increased neuronal autofluorescent lipopigment Developmental regression Ranula Retinal degeneration Neuronal loss in central nervous system Neurodegeneration Tetraparesis Progressive visual loss Macular degeneration Abnormal electroretinogram Atonic seizures Motor deterioration Undetectable electroretinogram Retinal thinning Aplasia cutis congenita Adactyly Lobar holoprosencephaly Congenital muscular dystrophy Pachygyria Congenital hip dislocation Preauricular skin tag Bradycardia Knee flexion contracture Hemivertebrae Plagiocephaly Holoprosencephaly Mask-like facies Skeletal muscle hypertrophy Hypoplasia of the brainstem Increased variability in muscle fiber diameter Calf muscle hypertrophy Cephalocele Cerebellar vermis hypoplasia Cortical dysplasia Generalized amyotrophy Multiple joint contractures Spinal rigidity Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Anencephaly Weak cry Ankle contracture Buphthalmos Auricular tag Exaggerated startle response Myocardial fibrosis Encephalocele Generalized muscle weakness Aplasia cutis congenita of scalp Respiratory insufficiency Periventricular leukomalacia Retrocerebellar cyst Abdominal wall defect Falciform retinal fold Cutis marmorata telangiectatica congenita Retinal nonattachment Small finger Muscle weakness Milia Myopathy Skeletal muscle atrophy Infantile onset Intellectual disability, severe Pectus excavatum Brain atrophy Respiratory distress Oxycephaly Rigidity Camptodactyly of finger Abnormality of the pinna Apnea Hip dislocation Arthrogryposis multiplex congenita Dolichocephaly Abnormality of the cerebral white matter Dilated cardiomyopathy Pulmonic stenosis Hypermetropia Abnormal cerebellum morphology Screwdriver-shaped incisors



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Retrognathia, related diseases and genetic alterations Hyperreflexia and Chorea, related diseases and genetic alterations

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