Delayed speech and language development, and Pes planus

Diseases related with Delayed speech and language development and Pes planus

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


Top matches:

High match CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Is also known as ;trisomy xp11.22-p11.23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pica
  • Delayed speech and language development
  • Intellectual disability, severe


SOURCES: SCTID DOID ORPHANET MESH UMLS MONDO GARD OMIM

More info about CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

High match MENTAL RETARDATION, X-LINKED 93; MRX93

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 Is also known as ;autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; autosomal recessive spinocerebellar ataxia type 13; scar13

Related symptoms:

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


SOURCES: MONDO OMIM UMLS ORPHANET DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13

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Other less relevant matches:

High match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). Genetic Heterogeneity of CAMRQCAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (OMIM ), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (OMIM ), caused by mutation in the CA8 gene (OMIM ) on chromosome 8q11; and CAMRQ4 (OMIM ), caused by mutation in the ATP8A2 gene (OMIM ) on chromosome 13q12.

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 Is also known as cerebellar hypoplasia, vldlr-associated, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1, cerebellar ataxia, congenital, and mental retardation, autosomal recessive, dysequilibrium syndrome;des;camrq syndrome; cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome; non-progressive cerebellar ataxia-intellectual disability syndrome

Related symptoms:

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


SOURCES: UMLS ORPHANET MONDO OMIM SCTID

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

High match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

High match SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

gene, localised to the p11.21 region of the X chromosome.

SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD Is also known as mental retardation, x-linked, syndromic, siderius type, siderius-hamel syndrome;

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cryptorchidism
  • Nevus
  • Delayed speech and language development


SOURCES: ORPHANET MONDO GARD DOID OMIM UMLS MESH

More info about SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

High match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cerebral palsy, spastic quadriplegic, 5, formerly;cpsq5, formerly

Related symptoms:

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


SOURCES: MONDO OMIM DOID UMLS

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

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 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 Is also known as cerebellar hypoplasia, nonprogressive norman type, cerebellar granular cell hypoplasia and mental retardation, congenital, cerebelloparenchymal disorder iii;cpd3, cpd iii;autosomal recessive spinocerebellar ataxia type 2; scar2

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET SCTID MONDO UMLS MESH DOID OMIM GARD

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Pes planus

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Gait ataxia Absent speech Autosomal recessive inheritance Muscular hypotonia Scoliosis Ataxia Hyperreflexia Dysarthria Cerebellar atrophy Dysmetria Nystagmus Cataract Spasticity Gait disturbance Ventriculomegaly Congenital onset Cerebellar hypoplasia Tremor Long face Hypertelorism Abnormal facial shape Dysdiadochokinesis High palate Intellectual disability, severe Intellectual disability, mild Upslanted palpebral fissure Autism

Rare Symptoms - Less than 30% cases


Abnormal cerebellum morphology Strabismus Hyperlordosis Joint laxity Short philtrum Motor delay Wide mouth Dystonia Hypertonia Myopia Micrognathia Large hands Autistic behavior Slender finger Postnatal microcephaly Babinski sign Underdeveloped nasal alae Broad nasal tip Arachnodactyly Progressive cerebellar ataxia Intention tremor Nonprogressive Abnormality of the skeletal system Hearing impairment Short palpebral fissure Cryptorchidism X-linked dominant inheritance Macrotia Nasal speech Triangular face Tall stature Prominent forehead Thoracic kyphosis X-linked recessive inheritance Ptosis Slow progression Infantile onset Kyphosis Poor speech Pes cavus Frontal bossing Oxycephaly Macrocephaly Thick lower lip vermilion Pica Obsessive-compulsive behavior Anxiety Pectus carinatum Low-set ears Downslanted palpebral fissures Attention deficit hyperactivity disorder Developmental regression Hypotelorism Obesity Hydrocephalus Thick vermilion border Constipation Syndactyly Genu recurvatum Febrile seizures Narrow forehead Spastic tetraplegia Open mouth Inability to walk Protruding tongue Abnormality of the periventricular white matter Facial hypotonia Excessive salivation Aggressive behavior Acetabular dysplasia Everted upper lip vermilion Failure to thrive Epicanthus Feeding difficulties Cerebral cortical atrophy Hyperactivity Gastroesophageal reflux Malar flattening Polyneuropathy Posteriorly rotated ears Limb ataxia Sensorineural hearing impairment Behavioral abnormality Hyporeflexia Ranula Malabsorption Unsteady gait Gliosis Incoordination Thick corpus callosum Hyperactive deep tendon reflexes Ocular albinism Abnormality of the retinal vasculature Enlarged cisterna magna Saccadic smooth pursuit Generalized hypopigmentation White hair Dilated fourth ventricle Severe expressive language delay Metopic synostosis Mandibular prognathia Lumbar hyperlordosis High forehead Proptosis Kyphoscoliosis Difficulty walking Prominent nasal bridge Tetraplegia High myopia Overgrowth Expressive language delay Sparse eyebrow Long fingers Disproportionate tall stature Megalencephaly Long foot Communicating hydrocephalus Slender build Long neck Waddling gait Hypoplasia of the corpus callosum Paraplegia Hypoplasia of the brainstem Protruding ear Pachygyria Truncal ataxia Abnormality of vision Cerebral palsy Broad-based gait Toe walking Abnormality of the eye Cortical gyral simplification Gaze-evoked nystagmus Scissor gait Pectus excavatum Clinodactyly Thin upper lip vermilion Abnormality of the cerebral white matter Abnormality of movement Intellectual disability, moderate Small hand Retrocerebellar cyst Horizontal nystagmus Neurological speech impairment Cerebellar cyst Hypometric saccades Limb dysmetria Difficulty standing Gaze-evoked horizontal nystagmus Functional motor deficit Pointed chin Inferior vermis hypoplasia Abnormality of ocular abduction Abnormal pyramidal sign Cognitive impairment Skeletal muscle atrophy Cupped ear Abnormality of metabolism/homeostasis Hypermetropia EEG with centrotemporal focal spike waves Bulbous nose Flexion contracture Preaxial hand polydactyly Preaxial polydactyly Bilateral cleft lip and palate Bilateral cleft lip Long toe Absence seizures Wide nasal bridge Prominent supraorbital ridges Talipes equinovarus Esotropia Toe syndactyly Coarse facial features Neonatal hypotonia EEG abnormality Spastic paraplegia Hoarse voice Oral cleft Intellectual disability, borderline Precocious puberty Prominent nose Shyness Overweight Sandal gap Broad hallux Overlapping toe Increased body weight Nevus Sloping forehead Atrial septal defect Polydactyly Synophrys Cleft lip Cleft upper lip Decreased testicular size Low posterior hairline Nonprogressive cerebellar ataxia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Sparse and thin eyebrow, related diseases and genetic alterations Obesity and Skeletal dysplasia, related diseases and genetic alterations Muscle weakness and Alopecia, related diseases and genetic alterations Micrognathia and Astigmatism, related diseases and genetic alterations Nystagmus and Oral cleft, related diseases and genetic alterations Sensorineural hearing impairment and Clinodactyly, related diseases and genetic alterations

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