Delayed speech and language development, and High myopia

Diseases related with Delayed speech and language development and High myopia

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


Top matches:

High match LOPES-MACIEL-RODAN SYNDROME; LOMARS

Related symptoms:

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


SOURCES: UMLS OMIM

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

High match PORETTI-BOLTSHAUSER SYNDROME; PTBHS

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

PORETTI-BOLTSHAUSER SYNDROME; PTBHS Is also known as ;poretti-boltshauser syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MONDO UMLS ORPHANET OMIM

More info about PORETTI-BOLTSHAUSER SYNDROME; PTBHS

High match BARDET-BIEDL SYNDROME 21; BBS21

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: UMLS MONDO OMIM

More info about BARDET-BIEDL SYNDROME 21; BBS21

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Other less relevant matches:

High 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

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: UMLS OMIM

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

High match SCHUURS-HOEIJMAKERS SYNDROME; SHMS

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

SCHUURS-HOEIJMAKERS SYNDROME; SHMS Is also known as mental retardation, autosomal dominant 17;mrd17;

Related symptoms:

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


SOURCES: OMIM UMLS MONDO NCIT DOID ORPHANET GARD

More info about SCHUURS-HOEIJMAKERS SYNDROME; SHMS

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

Related symptoms:

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


SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, debré type; arcl2, classic type; autosomal recessive cutis laxa type 2, debré type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus


SOURCES: UMLS ORPHANET SCTID

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Medium 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

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as door syndrome, digitorenocerebral syndrome, drc syndrome, brachydactyly due to absence of distal phalanges, eronen syndrome

Related symptoms:

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


SOURCES: MONDO OMIM GARD MESH

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Hypertelorism Retinal dystrophy Muscular hypotonia Strabismus Low-set ears High palate Feeding difficulties Smooth philtrum Bulbous nose Downslanted palpebral fissures Ventriculomegaly Cerebellar hypoplasia Gait disturbance Anteverted nares Abnormal facial shape Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Ptosis Cataract Scoliosis Nystagmus Motor delay

Rare Symptoms - Less than 30% cases


Developmental regression Abnormality of the pinna High forehead Slender build Macrotia Macrocephaly Infantile onset Mandibular prognathia Hypoplasia of the corpus callosum Hydrocephalus Microcephaly Slender finger Corneal opacity Decreased muscle mass Pes planus Polymicrogyria Wide mouth Wide intermamillary distance Kyphosis Lissencephaly Downturned corners of mouth Intellectual disability, profound Malar flattening Cerebellar atrophy Poor speech Synophrys Optic atrophy Short stature Dystonia Retinal thinning Ataxia Long philtrum Coarse facial features Cerebellar vermis hypoplasia Disproportionate tall stature Long fingers Sparse eyebrow Retinal atrophy Abnormality of the nervous system Cerebellar cyst Tall stature Pica Dandy-Walker malformation Blindness Arachnodactyly Kyphoscoliosis Spasticity Dysarthria Cryptorchidism Prominent nasal bridge Everted lower lip vermilion Hyperreflexia Behavioral abnormality Babinski sign Abnormal apolipoprotein level Splenomegaly Reduced visual acuity Long hallux Visual impairment Short nose Abnormality of the intrinsic pathway Small earlobe Pachygyria Lipodystrophy Redundant skin Coarse hair Cutis laxa Congenital hip dislocation Progressive microcephaly Broad nasal tip Delayed closure of the anterior fontanelle Carious teeth Sparse hair Postnatal growth retardation Dementia Inguinal hernia Intrauterine growth retardation Infantile muscular hypotonia Generalized joint laxity Narrow palm Abnormal isoelectric focusing of serum transferrin Subretinal pigment epithelium hemorrhage Focal motor seizures Thick cerebral cortex Fragmented elastic fibers in the dermis Abnormal subcutaneous fat tissue distribution Prominent veins on trunk Prominent nasolabial fold Redundant neck skin Psychomotor deterioration Long palm Thick hair Asymmetry of the ears Failure to thrive Excessive wrinkled skin Photophobia Gout EEG abnormality Short distal phalanx of finger Epicanthus Peripheral neuropathy Brachydactyly Wide nasal bridge Arrhythmia Cerebral atrophy Respiratory distress Hyporeflexia Recurrent respiratory infections Progressive Abnormal heart morphology Neonatal hypotonia Respiratory tract infection Nail dystrophy Abnormality of the skin Hearing impairment Triphalangeal thumb Prominent nasal tip Cystic renal dysplasia Severe sensorineural hearing impairment Hypoplasia of the iris Infantile spasms Anonychia Abnormality of the fingernails Nail dysplasia Short phalanx of finger Small nail Hypsarrhythmia Bilateral sensorineural hearing impairment Renal agenesis Prominent nose Sensorineural hearing impairment Abnormality of mucopolysaccharide metabolism Hepatosplenomegaly Palpebral edema Skeletal dysplasia Retinopathy Ranula Retinal degeneration Palmoplantar keratoderma Esotropia Microdontia Spastic tetraplegia Abnormality of retinal pigmentation Opacification of the corneal stroma Abnormal electroretinogram Aspiration Biparietal narrowing Abnormality of abdomen morphology Increased serum ferritin Abnormality of ganglioside metabolism Esodeviation Truncal titubation Oligosacchariduria Progressive psychomotor deterioration Hoarse cry Cerebral dysmyelination Dysplastic corpus callosum Titubation Genu recurvatum Abnormal nasal morphology Decreased light- and dark-adapted electroretinogram amplitude Aplasia/Hypoplasia of the abdominal wall musculature Developmental stagnation Motor deterioration Severe visual impairment Hyperextensibility of the finger joints Diastema Epileptic spasms Cerebral calcification Hypoplasia of the fovea Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Hyperautofluorescent macular lesion Myopathy Intellectual disability, severe Coma Microphthalmia Dilatation Glaucoma Respiratory failure Muscular dystrophy Acrania Leukodystrophy Constriction of peripheral visual field Holoprosencephaly Poor head control Buphthalmos Renal cortical cysts Frontal bossing Congenital onset Upslanted palpebral fissure Cerebral cortical atrophy Posteriorly rotated ears Oxycephaly Prominent forehead Gait ataxia Proptosis Chorioretinal atrophy Cone/cone-rod dystrophy Hyperlordosis Heterotopia Pain Severe global developmental delay Chorea Focal seizures Bradykinesia Tetraparesis Spastic tetraparesis Focal seizures with impairment of consciousness or awareness Central hypotonia Bruxism Muscle weakness Abnormality of eye movement Apraxia Amblyopia Horseshoe kidney Oculomotor apraxia Abnormality of the periventricular white matter Abnormally large globe Cerebellar dysplasia Dilated fourth ventricle Abnormality of the dentition Obesity Rod-cone dystrophy Elevated hepatic transaminase Polydactyly Hypodontia Postaxial polydactyly Postaxial hand polydactyly Joint laxity Difficulty walking Broad-based gait Abnormality of movement Talipes equinovarus Pectus excavatum X-linked recessive inheritance Osteoporosis Brachycephaly Myoclonus Narrow mouth Intellectual disability, moderate Short philtrum Clonus Camptodactyly Pectus carinatum Facial asymmetry Cleft palate Unsteady gait High, narrow palate Recurrent fractures Bifid uvula Postural instability Webbed neck Spontaneous abortion Generalized myoclonic seizures Thick lower lip vermilion Dental crowding Hyperpigmentation of the skin Narrow face Nasal speech Cognitive impairment Cavum septum pellucidum Long face Autosomal dominant inheritance Triangular face Abnormal cerebellum morphology Lumbar hyperlordosis Overgrowth Large hands Megalencephaly Long foot Communicating hydrocephalus Long neck Expressive language delay Metopic synostosis Thick corpus callosum Severe expressive language delay Constipation Unilateral cryptorchidism Abnormality of the genital system Thin upper lip vermilion Aggressive behavior Coloboma Abnormal cardiac septum morphology Highly arched eyebrow Intestinal malrotation Broad thumb Low anterior hairline Long eyelashes Single umbilical artery Speech apraxia Volvulus Profound sensorineural hearing impairment



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hyporeflexia, related diseases and genetic alterations Microphthalmia and Hip dislocation, related diseases and genetic alterations

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