Delayed speech and language development, and Dental crowding
Diseases related with Delayed speech and language development and Dental crowding
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Dental crowding that can help you solving undiagnosed cases.
Top matches:
High match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS
High match MENTAL RETARDATION, X-LINKED 19; MRX19
X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Pica
- Scoliosis
More info about MENTAL RETARDATION, X-LINKED 19; MRX19
High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Hypertelorism
- Motor delay
SOURCES: GARD MONDO OMIM UMLS DOID
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29Too many results?
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Other less relevant matches:
High match CK SYNDROME
CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010).CHILD syndrome (OMIM ) is an allelic disorder with a different phenotype.
CK SYNDROME Is also known as mental retardation, x-linked, with thin body habitus and cortical malformation;x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Pica
SOURCES: OMIM UMLS ORPHANET MONDO
More info about CK SYNDROMEHigh match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
Related symptoms:
- Intellectual disability
- Seizures
- Scoliosis
- Strabismus
- Motor delay
SOURCES: ORPHANET
More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCYHigh match ALAZAMI-YUAN SYNDROME; ALYUS
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ALAZAMI-YUAN SYNDROME; ALYUS
High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31
High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Is also known as ;
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
SOURCES: ORPHANET OMIM DOID UMLS MONDO
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive
Related symptoms:
- Autosomal recessive inheritance
- Global developmental delay
- Short stature
- Pica
- Micrognathia
SOURCES: GARD OMIM UMLS MESH MONDO
More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVEMedium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20
Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 Is also known as ;autosomal recessive spinocerebellar ataxia type 20; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; scar20
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: MONDO ORPHANET OMIM UMLS DOID
More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20Top 5 symptoms//phenotypes associated to Delayed speech and language development and Dental crowding
Symptoms // Phenotype | % cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Seizures | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Strabismus | Common - Between 50% and 80% cases |
Scoliosis | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Dental crowding. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Pica Generalized hypotonia High palate Motor delay Autosomal recessive inheritance Long philtrum Myopia Brachycephaly Synophrys Autosomal dominant inheritance Clinodactyly Microcephaly Micrognathia Epicanthus Absent speech Thin upper lip vermilion Poor speech Short stature
Rare Symptoms - Less than 30% cases
Prominent nasal bridge Low anterior hairline Narrow mouth Attention deficit hyperactivity disorder Cryptorchidism Underdeveloped nasal alae Long face Narrow palate Delayed eruption of teeth Frontal bossing Hyperlordosis Macrocephaly Short palpebral fissure Kyphosis Cerebral atrophy Upslanted palpebral fissure Feeding difficulties Aggressive behavior Hyperactivity Oxycephaly Self-injurious behavior Overgrowth Prominent forehead Coarse facial features Hypertelorism Kyphoscoliosis Inability to walk Abnormality of the dentition Anteverted nares Downslanted palpebral fissures Visual impairment Hearing impairment Hyperplasia of the maxilla Abnormal facial shape Low-set ears Hypoplasia of the maxilla Hypospadias Abnormality of the skeletal system Dental malocclusion Small hand Autism Sparse scalp hair Wide nasal bridge Large fontanelles Fine hair Microcornea Thin vermilion border Triangular face Microphthalmia Cataract Failure to thrive Impaired mastication Slender finger Obsessive-compulsive behavior Drooling Delayed skeletal maturation Smooth philtrum Syndactyly Astigmatism Telecanthus Toe syndactyly Short foot Downturned corners of mouth Abnormality of dental enamel Ataxia Sparse eyelashes Abnormality of the cerebral white matter Cerebellar atrophy Hyporeflexia Babinski sign Cerebellar hypoplasia Cerebral cortical atrophy Hepatosplenomegaly Camptodactyly Autistic behavior Talipes Splenomegaly Macroglossia Thick vermilion border Neuronal loss in central nervous system Apraxia Hypertrichosis Relative macrocephaly Broad face Broad philtrum Wide nasal base Talipes equinovarus Infantile onset Abnormality of dental morphology Cranial hyperostosis Hyperostosis Long nose Basal ganglia calcification Narrow nose Spinal cord compression Large earlobe Mild global developmental delay Hypoplasia of teeth Cutaneous syndactyly of toes Broad long bones Brachydactyly Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Growth delay Nystagmus Sensorineural hearing impairment Spasticity Depressed nasal bridge Broad hallux Obtundation status Narrow face Posteriorly rotated ears Retrognathia Irritability Polymicrogyria Joint hypermobility Sleep disturbance Pachygyria Abnormality of digit Malar flattening Abnormal cortical bone morphology Slender build Almond-shaped palpebral fissure Muscular hypotonia Optic atrophy Abnormality of the genital system Gastroesophageal reflux X-linked recessive inheritance Pointed chin Pectus carinatum Tics Intellectual disability, severe Hypermetropia Esotropia Psychosis Amblyopia Open bite Short attention span Intellectual disability, mild EEG abnormality Intellectual disability, moderate Small for gestational age Broad nasal tip Thick lower lip vermilion X-linked dominant inheritance Long foot Ptosis Anxiety Lumbar hyperlordosis Abnormal palmar dermatoglyphics Epileptic encephalopathy Behavioral abnormality Encephalopathy Gait ataxia Difficulty walking Developmental regression Cortical visual impairment Hypsarrhythmia Gingival overgrowth Curly eyelashes Sandal gap Short finger Flat occiput Focal seizures with impairment of consciousness or awareness Global brain atrophy Epileptic spasms Small earlobe Arrhythmia Unilateral cryptorchidism Mitral regurgitation Exaggerated median tongue furrow Exotropia Stereotypy 2-3 toe syndactyly Vertebral fusion Thoracic kyphoscoliosis Butterfly vertebrae Abnormality of brain morphology Neonatal hypotonia Short columella Narrow chest Thick eyebrow Single transverse palmar crease Highly arched eyebrow Hirsutism Wide intermamillary distance Prominent nose Long eyelashes Red urine
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Conductive hearing impairment, related diseases and genetic alterations Downslanted palpebral fissures and Bulbous nose, related diseases and genetic alterations Myopia and Thin vermilion border, related diseases and genetic alterations Intellectual disability, severe and Lethargy, related diseases and genetic alterations Delayed speech and language development and Hepatosplenomegaly, related diseases and genetic alterations Macrocephaly and Carious teeth, related diseases and genetic alterations Microphthalmia and Hyporeflexia, related diseases and genetic alterations