High palate, and Poor speech

Diseases related with High palate and Poor speech

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

High match FRIED SYNDROME

Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Muscular hypotonia
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRIED SYNDROME

Other less relevant matches:

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Top 5 symptoms//phenotypes associated to High palate and Poor speech

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Poor speech. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Short philtrum Abnormal facial shape Seizures Absent speech Strabismus Thick eyebrow Long face Neurological speech impairment Muscular hypotonia Neonatal hypotonia Wide nasal bridge Hyperactivity Macrotia Highly arched eyebrow Scoliosis Long philtrum Intellectual disability, severe Thin upper lip vermilion Constipation Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Abnormal cardiac septum morphology Short stature Joint laxity Epicanthus Cryptorchidism Gait ataxia Upslanted palpebral fissure Joint hypermobility Open mouth Synophrys Low-set ears Attention deficit hyperactivity disorder Ptosis Pain Facial hypotonia Pointed chin Stereotypy Tented philtrum Underdeveloped nasal alae Tented upper lip vermilion Sacral dimple Narrow forehead Dolichocephaly Babinski sign Flexion contracture Micrognathia Wide intermamillary distance Dysphagia Aggressive behavior Skeletal muscle atrophy Failure to thrive High, narrow palate Coarse facial features Plagiocephaly Incoordination Dental crowding Delayed ability to walk Waddling gait Hypertelorism Wide mouth Abnormality of the skeletal system Pectus excavatum Ventricular septal defect Hyporeflexia Polydactyly Craniosynostosis Thick vermilion border Microtia Prominent antihelix Peripheral neuropathy Shyness Long nose Tetraplegia Spastic tetraplegia Amblyopia Tremor Narrow face Drooling Decreased muscle mass Progressive spastic paraplegia Everted upper lip vermilion Abnormality of the periventricular white matter Overweight Genu recurvatum Generalized joint laxity Spastic dysarthria Acetabular dysplasia Downturned corners of mouth Postaxial polydactyly Bicuspid aortic valve Hip dysplasia Brain atrophy IgG deficiency Recurrent respiratory infections Gastroesophageal reflux Apnea Hypermetropia Everted lower lip vermilion Delayed myelination IgA deficiency Sleep apnea Recurrent upper respiratory tract infections Supernumerary nipple Cortical dysplasia Impaired pain sensation Obstructive sleep apnea Diastasis recti Protruding tongue Atonic seizures Facial asymmetry Wide nasal ridge Talipes Oligodontia Overlapping toe Long palpebral fissure Inverted nipples Thickened nuchal skin fold Sparse lateral eyebrow Ataxia Cortical gyral simplification Motor delay Brachydactyly Anteverted nares Behavioral abnormality Clinodactyly Decreased antibody level in blood Pachygyria Bulbous nose Pes planus Paraplegia Gait disturbance Onion bulb formation Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Intellectual disability, moderate Hydrocephalus Narrow mouth Failure to thrive in infancy Prominent nasal bridge Hearing impairment Narrow chest Hirsutism Kinetic tremor Single transverse palmar crease Prominent nose Decreased number of peripheral myelinated nerve fibers Decreased nerve conduction velocity Self-mutilation Abnormal cerebellum morphology Areflexia Abnormal heart morphology Abnormality of the optic nerve Thickened calvaria Spastic diplegia Cerebral calcification Autistic behavior Broad-based gait Abnormality of the foot Smooth philtrum Unsteady gait Distal sensory impairment Wide nose Triangular face Sensory impairment Hand tremor Long eyelashes Spastic paraplegia Hyperreflexia Neonatal hypoglycemia Broad eyebrow Mandibular prognathia Submucous cleft soft palate Nystagmus Spasticity Talipes equinovarus Spinal muscular atrophy Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Hypertonia Dystonia Cerebral cortical atrophy Difficulty walking Oral-pharyngeal dysphagia Dysphonia Low anterior hairline Cleft palate Broad hallux Short columella Unilateral cryptorchidism Curly eyelashes Narrow palpebral fissure Muscle weakness Narrow palate Blepharophimosis Depressivity Small hand Retrognathia Hypoglycemia Feeding difficulties in infancy Broad nasal tip Inability to walk Abnormality of the renal collecting system


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