High palate, and Severe global developmental delay

Diseases related with High palate and Severe global developmental delay

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

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

Other less relevant matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18 Is also known as spg18|intellectual disability, motor dysfunction, and joint contractures|idmdc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Severe global developmental delay

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Severe global developmental delay. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Epicanthus Hypertelorism Strabismus Low-set ears Wide nasal bridge Abnormal facial shape Absent speech Short stature Agenesis of corpus callosum Anteverted nares Spasticity Hypoplasia of the corpus callosum Motor delay Hyperreflexia Prominent forehead High forehead Intellectual disability, severe Downslanted palpebral fissures Infantile spasms Optic atrophy Small hand

Rare Symptoms - Less than 30% cases

Delayed ability to walk Spastic tetraplegia Micrognathia Cataract Respiratory failure Tapered finger Cerebral atrophy Ventricular septal defect Tetraparesis Postnatal microcephaly Broad forehead Wide anterior fontanel Flexion contracture Visual impairment Developmental regression EEG abnormality Hypertonia Spastic paraplegia Abnormality of eye movement Lissencephaly Thin upper lip vermilion Hyperactivity Ventriculomegaly Cryptorchidism Nystagmus Inability to walk Trigonocephaly Neonatal hypotonia Low-set, posteriorly rotated ears Failure to thrive Intellectual disability, mild Short nose Inguinal hernia Feeding difficulties Round face Short foot Prominent nasal bridge EEG with generalized slow activity Increased serum pyruvate Thoracolumbar kyphoscoliosis Generalized hirsutism Infantile encephalopathy Intellectual disability, progressive Mood swings Multifocal seizures Patent ductus arteriosus Diarrhea Long philtrum Developmental stagnation Low anterior hairline Renal dysplasia Micropenis Abnormality of the genital system Feeding difficulties in infancy Malabsorption Pulmonary hypoplasia Gliosis Decreased testicular size Renal hypoplasia/aplasia Abnormality of the hip bone Bruxism Thick lower lip vermilion Sleep disturbance Generalized myoclonic seizures Broad alveolar ridges Delayed myelination Focal-onset seizure Epileptic encephalopathy Sloping forehead Apraxia Intellectual disability, profound Hypsarrhythmia Limb joint contracture Prominent supraorbital ridges Stereotypy Abnormal hair pattern Cerebral visual impairment Progressive microcephaly Spastic tetraparesis Loss of consciousness Abnormally large globe Poor eye contact Hyperventilation Hypoplasia of penis Overlapping toe Specific learning disability Aganglionic megacolon Ambiguous genitalia Subependymal cysts Short palm Muscular hypotonia of the trunk Unsteady gait Lactic acidosis Hemolytic anemia Metabolic acidosis Coma Poor gross motor coordination Increased serum lactate Projectile vomiting Periventricular cysts Pectus excavatum Progressive neurologic deterioration Decreased activity of the pyruvate dehydrogenase complex Broad-based gait Spastic diplegia Partial agenesis of the corpus callosum Difficulty running Lipoma Poor coordination Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Acidosis Dilatation Pachygyria Temperature instability Hyperalaninemia Chronic diarrhea Hypohidrosis Exocrine pancreatic insufficiency Profound global developmental delay Hydranencephaly Long upper lip Tetraplegia Hirsutism Duane anomaly Abnormality of temperature regulation Type I lissencephaly Dystonia Ataxia Anemia Dysarthria Synophrys Respiratory insufficiency Respiratory distress Protruding ear Coarse facial features Cerebral cortical atrophy Hypospadias Vomiting Thick vermilion border Abnormality of the liver Deeply set eye Areflexia Open mouth Tall stature Dental crowding Short chin Hypoplasia of the brainstem Disproportionate tall stature Severe postnatal growth retardation Ulnar deviation of the hand Hepatomegaly Atrial septal defect Congestive heart failure Pulmonic stenosis Highly arched eyebrow Prominent nose Decreased fetal movement Epiphyseal stippling Secundum atrial septal defect Perimembranous ventricular septal defect Right aortic arch Generalized neonatal hypotonia Muscle weakness Skeletal muscle atrophy Gait disturbance Kyphosis Babinski sign Broad nasal tip Everted lower lip vermilion Difficulty walking Recurrent fractures Obesity Clinodactyly Low posterior hairline Severe muscular hypotonia Cubitus valgus Short 5th finger Macrodontia Intrauterine growth retardation Short neck Abnormality of cardiovascular system morphology Finger syndactyly Joint hyperflexibility Preauricular skin tag Bulbous nose Microretrognathia Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Growth delay Myopia Upslanted palpebral fissure Pes planus Postnatal growth retardation Wide mouth Arachnodactyly Pes cavus Distal muscle weakness Kyphoscoliosis Abnormal palate morphology Ptosis Macrocephaly Frontal bossing Abnormality of metabolism/homeostasis Dolichocephaly Abnormality of movement Retinal dystrophy High, narrow palate Esotropia Abnormality of retinal pigmentation Decreased liver function Bilateral single transverse palmar creases Abnormality of neuronal migration Hearing impairment Adrenal insufficiency Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Cognitive impairment Depressed nasal bridge Blindness Cerebellar atrophy Encephalopathy Constipation Myoclonus Gastroesophageal reflux Sensorineural hearing impairment Parietal hypometabolism in FDG PET Cough Ankle clonus Neurological speech impairment Paraplegia Lower limb muscle weakness Febrile seizures Lower limb spasticity Clonus Elbow flexion contracture Knee flexion contracture Delayed gross motor development Language impairment Toe walking Aphasia Progressive spastic paraplegia Abnormality of jaw muscles Hip contracture Ankle contracture Limb hypertonia Upper motor neuron dysfunction Upper limb spasticity Pseudobulbar paralysis Wrist flexion contracture Flexion contracture of toe Difficulty in tongue movements Narrow maxilla Flexion contracture of finger Glabellar reflex Hyperconvex nail


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