High palate, and Constipation

Diseases related with High palate and Constipation

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

Top 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

Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54 Is also known as spg54

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Strabismus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Other less relevant matches:

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 MENDELIAN

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

High match MOGS-CDG

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

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

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

Top 5 symptoms//phenotypes associated to High palate and Constipation

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Failure to thrive Microcephaly Hyperactivity Autistic behavior Absent speech Short stature Gait ataxia Strabismus Delayed speech and language development Deeply set eye Hypertelorism Spasticity Hypoplasia of the corpus callosum Low-set ears Cerebral atrophy Cerebellar atrophy Chronic constipation Anteverted nares Autism Gastroesophageal reflux Aggressive behavior Developmental regression Self-injurious behavior Thick lower lip vermilion Muscular hypotonia Wide nose Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Short palpebral fissure Depressed nasal bridge Visual impairment Cryptorchidism Sensorineural hearing impairment Nystagmus Hearing impairment Stereotypy Postnatal microcephaly Hypotelorism Downturned corners of mouth Underdeveloped nasal alae Thick vermilion border Pectus carinatum Short philtrum Attention deficit hyperactivity disorder Joint laxity Abnormal cardiac septum morphology Anxiety Poor speech Unsteady gait Macrocephaly Syringomyelia Delayed myelination Cerebral visual impairment Generalized myoclonic seizures Long face Broad forehead Intellectual disability, mild Edema Bruxism Infantile spasms Spastic tetraparesis Progressive microcephaly Tetraparesis Ataxia Hypsarrhythmia Epileptic encephalopathy Abnormal pyramidal sign EEG abnormality Myoclonus Encephalopathy Blindness Intellectual disability, severe Pain Long philtrum Open mouth Inability to walk Dysarthria Gait disturbance Hyperreflexia Infantile muscular hypotonia Onion bulb formation Bulbous nose Broad nasal tip Delayed ability to walk Memory impairment Intention tremor Depressed nasal ridge Pointed chin Prolonged prothrombin time Brisk reflexes Dysmetria Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Palpebral edema Protruding ear Flexion contracture Long eyelashes Abnormality of metabolism/homeostasis Alopecia Retrognathia Feeding difficulties in infancy Blepharophimosis Hepatic failure Recurrent fractures Decreased antibody level in blood Prominent occiput Neonatal hypotonia Thoracic scoliosis Hypoventilation Overlapping fingers Generalized edema Hand clenching Tremor Cerebellar hypoplasia Cerebral cortical atrophy Narrow mouth Short ear Hippocampal atrophy Hypoplastic hippocampus Sloping forehead Respiratory failure Kyphoscoliosis Severe global developmental delay Short palm Small hand Short foot Tapered finger Sleep disturbance Focal-onset seizure Apraxia Cognitive impairment Intellectual disability, profound Loss of consciousness Poor eye contact Hyperventilation Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis Prominent forehead Wide nasal ridge Segmental myoclonic seizures Dolichocephaly Ptosis Abnormality of the skeletal system Ventricular septal defect Pectus excavatum Hyporeflexia Polydactyly Craniosynostosis Microtia Neurological speech impairment Postaxial polydactyly Sparse lateral eyebrow Wide intermamillary distance Hip dysplasia Sacral dimple Bicuspid aortic valve Oligodontia Overlapping toe Long palpebral fissure Inverted nipples Thickened nuchal skin fold Recurrent infections Optic atrophy Normocytic anemia Neutropenia Metaphyseal irregularity Metaphyseal widening Laryngomalacia Abnormal cerebellum morphology Genu varum Severe muscular hypotonia Rhizomelia Thin upper lip vermilion High myopia Upslanted palpebral fissure Wide mouth Obsessive-compulsive behavior Respiratory tract infection Thrombocytopenia Diarrhea Myopia Anemia Decreased nerve conduction velocity Growth delay Abnormal heart morphology Mild short stature Neurodevelopmental delay Prominent nasal bridge Epicanthus Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Broad-based gait Sensory impairment Prolonged partial thromboplastin time Triangular face Micrognathia Mild global developmental delay Hypertonia Hyperlordosis Behavioral abnormality Distal sensory impairment Severe failure to thrive Smooth philtrum Exocrine pancreatic insufficiency Pes planus Metaphyseal dysplasia Abnormality of the foot Steatorrhea Areflexia Synophrys Hepatomegaly Telecanthus Chorea Febrile seizures Lower limb muscle weakness Generalized-onset seizure Spastic tetraplegia Paraplegia Status epilepticus Spastic paraplegia Involuntary movements Babinski sign Dyskinesia Decreased number of peripheral myelinated nerve fibers Focal impaired awareness seizure Global brain atrophy Disproportionate tall stature Dysphagia Atonic seizures Profound global developmental delay Oculogyric crisis Inappropriate crying Tetraplegia Demyelinating peripheral neuropathy Failure to thrive in infancy Progressive spasticity Contractures involving the joints of the feet Periventricular white matter hyperdensities Lumbar scoliosis Asymmetry of the ears Optic disc hypoplasia Tip-toe gait Ventriculomegaly Periventricular leukomalacia Abnormality of the periventricular white matter Peripheral neuropathy Thick eyebrow Bowel incontinence Optic nerve hypoplasia Spastic gait Intellectual disability, moderate Abnormality of the eye Urinary incontinence Abnormality of eye movement Abnormality of movement Joint hypermobility EEG with generalized slow activity


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