High palate, and Pneumonia

Diseases related with High palate and Pneumonia

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

Top matches:

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Other less relevant matches:

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 4; NEM4

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Seizures Recurrent pneumonia Facial palsy Generalized muscle weakness Myopathy Respiratory insufficiency Muscle weakness Hyporeflexia Scoliosis Growth delay Neonatal hypotonia Micrognathia Hyperlordosis Nasal speech Microcephaly Feeding difficulties Intellectual disability, severe Muscular hypotonia Hypertonia Waddling gait Spasticity Hyperreflexia Neck muscle weakness

Rare Symptoms - Less than 30% cases

Facial hypotonia Infantile muscular hypotonia Respiratory distress Drooling Pectus excavatum Spastic tetraplegia Encephalopathy Progressive spasticity Restrictive ventilatory defect Areflexia Skeletal muscle atrophy Hypoventilation Elbow flexion contracture Progressive muscle weakness Limb muscle weakness Reduced vital capacity Nocturnal hypoventilation Proximal muscle weakness Kyphosis Gait disturbance Cough Increased variability in muscle fiber diameter Fever Myopathic facies Ragged-red muscle fibers Hepatomegaly Ptosis Respiratory arrest Paraplegia Poor head control Muscular dystrophy Tetraplegia Respiratory failure Abnormality of the cerebral white matter Talipes equinovarus Hypertelorism Epicanthus Immunodeficiency Recurrent infections Recurrent respiratory infections Retrognathia Respiratory tract infection Decreased antibody level in blood Agammaglobulinemia Delayed speech and language development Wide nasal bridge Macrocephaly Mandibular prognathia Ataxia Gowers sign Absent speech Babinski sign Short philtrum Spastic paraplegia Progressive spastic paraparesis Axial muscle weakness Spinal rigidity Hip contracture Malignant hyperthermia Thoracolumbar scoliosis Right ventricular hypertrophy Cor pulmonale Restrictive deficit on pulmonary function testing Abnormality of the rib cage Polyhydramnios Muscle fiber necrosis Peroneal muscle atrophy High pitched voice Orthopnea Crackles Minicore myopathy Generalized lipodystrophy Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Prominent nasal tip Abnormality on pulmonary function testing Generalized amyotrophy Arthrogryposis multiplex congenita Congenital muscular dystrophy Absence of subcutaneous fat High, narrow palate Facial diplegia Narrow nasal tip Nemaline bodies Tented philtrum Trismus Type 1 muscle fiber predominance Neck flexor weakness Central hypoventilation Loss of facial adipose tissue Congenital generalized lipodystrophy Generalized limb muscle atrophy Ventricular hypertrophy Short stature Hypertension Abnormality of eye movement Severe global developmental delay Cardiomyopathy Postnatal growth retardation Edema Congestive heart failure Rigidity Apnea Cataract Cardiac conduction abnormality Short neck Tremor Opisthotonus Premature skin wrinkling Progeroid facial appearance Spastic paraparesis Restlessness Juvenile cataract Self-mutilation Poor coordination Macroorchidism Shallow orbits Bruxism Narrow nasal bridge Mask-like facies Paraparesis Lipodystrophy Increased susceptibility to fractures Tented upper lip vermilion Spastic tetraparesis Shuffling gait Gingival overgrowth Slender build Mania Thin skin Open mouth Intellectual disability, profound Abnormally large globe Spastic gait Excessive salivation Muscular hypotonia of the trunk Abnormality of the dentition Dystonia Intellectual disability, mild Dyspnea Narrow naris Febrile seizures Pes cavus Gait ataxia Underdeveloped nasal alae Macrotia EEG abnormality Abnormal pyramidal sign Postnatal microcephaly Decreased testicular size Genu valgum Small hand Parkinsonism Abnormality of extrapyramidal motor function Apraxia Proptosis Dimple chin Psychosis Upper airway obstruction Choreoathetosis Clumsiness Narrow nasal ridge Chronic diarrhea Aortic root aneurysm Wide nasal ridge Bulbous nose Inability to walk Gliosis Narrow forehead Aspiration Intellectual disability, progressive Cerebral palsy Adducted thumb Aspiration pneumonia Everted upper lip vermilion Pseudobulbar signs Cleft palate Coarse facial features Dysphagia Gastroesophageal reflux Paralysis Camptodactyly of finger Decreased fetal movement Severe muscular hypotonia Long fingers Bulbar palsy Difficulty running Increased connective tissue Diaphragmatic paralysis Increased endomysial connective tissue Wide mouth Cerebellar atrophy Hypothyroidism Clinodactyly Abnormal facial shape Low-set ears Depressed nasal bridge Anteverted nares Short nose Everted lower lip vermilion Round face Short chin Chronic bronchitis Downslanted palpebral fissures Frontal bossing Clinodactyly of the 5th finger Hypoplasia of the corpus callosum Prominent forehead Hepatosplenomegaly Anxiety Aggressive behavior Craniosynostosis Broad nasal tip Stereotypy Finger clinodactyly Microretrognathia Scaphocephaly Strabismus Ventriculomegaly Elevated serum creatine phosphokinase Acidosis Congenital contracture Crohn's disease Conjunctivitis Recurrent skin infections Encephalitis Chronic otitis media Osteomyelitis Cellulitis Bronchitis Recurrent sinusitis External ear malformation Verrucae B lymphocytopenia Recurrent enteroviral infections Meningitis Dysarthria Dilatation Kyphoscoliosis Difficulty walking Feeding difficulties in infancy Distal muscle weakness Lower limb muscle weakness Unsteady gait Mitral valve prolapse Abnormal lung morphology Narrow face Scapular winging Recurrent bacterial infections Sinusitis Pes planus Cytochrome C oxidase-negative muscle fibers Myalgia Lactic acidosis Hepatic failure Macroglossia Increased serum lactate Lumbar hyperlordosis Respiratory insufficiency due to muscle weakness Mitochondrial myopathy Severe lactic acidosis Decreased plasma carnitine Increased serum pyruvate Increased muscle lipid content Bronchiectasis Increased muscle glycogen content Muscle fiber hypertrophy Fatigue Diarrhea Arthritis Skin rash Malabsorption Neutropenia Sepsis Dehydration Hepatitis Recurrent otitis media Abnormality of the forehead


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