High palate, and Bulbous nose

Diseases related with High palate and Bulbous nose

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

Top matches:

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 cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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:

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Spastic quadriplegia-52 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 Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Bulbous nose

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Wide mouth Absent speech Strabismus Hypoplasia of the corpus callosum Low-set ears Talipes equinovarus Babinski sign Muscular hypotonia Spasticity Short philtrum Epicanthus Anteverted nares Hyperreflexia Highly arched eyebrow Narrow forehead Feeding difficulties Delayed ability to walk Mandibular prognathia Scoliosis Facial hypotonia EEG abnormality Spastic tetraplegia Macrocephaly Hypertonia Neonatal hypotonia Tetraplegia Inability to walk Coarse facial features Dystonia Intellectual disability, severe Ventriculomegaly Paraplegia Short stature Delayed speech and language development Spastic paraplegia

Rare Symptoms - Less than 30% cases

Hearing impairment Flexion contracture Thick eyebrow Prominent nose Tapered finger Muscular hypotonia of the trunk Cerebral palsy Abnormality of the cerebral white matter Nystagmus Telecanthus Myopia Brachycephaly Autistic behavior Prominent nasal bridge Febrile seizures Growth delay Failure to thrive Prominent forehead Upslanted palpebral fissure Arachnodactyly Micrognathia Sparse eyebrow High, narrow palate Macrotia Talipes Everted upper lip vermilion Short nose Underdeveloped nasal alae Pes planus Postnatal microcephaly Downslanted palpebral fissures Depressed nasal bridge Sparse hair Frontal bossing Infantile muscular hypotonia Open mouth Adducted thumb Obsessive-compulsive behavior Large hands Long fingers Overweight Exotropia Stereotypy Short palpebral fissure Low posterior hairline Hypotelorism Breast aplasia Sleep disturbance Astigmatism Long nose Abnormality of female external genitalia Broad alveolar ridges Frontal hirsutism Dyskinesia Thick lower lip vermilion Cerebral visual impairment Ablepharon Self-injurious behavior Nasogastric tube feeding Recurrent hand flapping Agenesis of corpus callosum Generalized hypertrichosis Proptosis Craniosynostosis Blepharophimosis Mild hearing impairment Broad forehead Small for gestational age Gingival fibromatosis Sparse or absent eyelashes Short neck Turricephaly Low anterior hairline Microdontia Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Sparse and thin eyebrow Hypoplastic nipples Generalized hirsutism Dental malocclusion Cutis laxa Hyperextensible skin Dermal atrophy Atresia of the external auditory canal Redundant skin Ectropion Aplasia/Hypoplasia of the skin Cupped ear Abnormality of the skin Deeply set eye Long foot Microtia Cleft palate Aplasia/Hypoplasia of the eyebrow Hypospadias Rigidity Conductive hearing impairment Abnormality of the pinna Absent nipple Dry skin Ectodermal dysplasia Thin vermilion border Hirsutism Skin tags Delayed eruption of teeth Taurodontia Inverted nipples Shawl scrotum Triangular face Waddling gait Misalignment of teeth Osteopenia Pes cavus Aspiration Intellectual disability, progressive Drooling Progressive spasticity Aspiration pneumonia Pseudobulbar signs Wide nasal ridge Posteriorly rotated ears Pneumonia Hyperactivity Dysarthria Aggressive behavior Joint laxity Dolichocephaly Synophrys Unsteady gait Gliosis Cerebellar atrophy Brain atrophy Microphthalmia Protruding tongue Abnormality of the periventricular white matter Genu recurvatum Excessive salivation Acetabular dysplasia Cataract Long philtrum Acidosis Ataxia High forehead Lactic acidosis Hepatic failure Metabolic acidosis Delayed myelination Aciduria Tented upper lip vermilion Long face Hypsarrhythmia Encephalopathy Trigonocephaly Postnatal growth retardation Severe global developmental delay Everted lower lip vermilion Broad nasal tip Tall stature Dental crowding Short chin Hypoplasia of the brainstem Polyphagia Disproportionate tall stature Severe postnatal growth retardation Ulnar deviation of the hand Ptosis Visual impairment Cerebral atrophy Midface retrusion Narrow nose Microretrognathia Long eyelashes Spastic diplegia Progressive microcephaly Decreased muscle mass Motor delay Hydrocephalus Apnea Thick vermilion border Focal-onset seizure Loss of ability to walk Round face Simple febrile seizures Abnormality of cardiovascular system morphology Obesity Clinodactyly of the 5th finger Autism Short palm Short foot Full cheeks Abnormality of male external genitalia


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