High palate, and Abnormality of the eye

Diseases related with High palate and Abnormality of the eye

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

Top matches:

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Related symptoms:

  • High palate
  • Pectus excavatum
  • Choanal atresia
  • Lymphedema
  • Pericardial effusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • High palate
  • Clinodactyly
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 45; MRX45

Other less relevant matches:

AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5 Is also known as agammaglobulinemia, autosomal dominant, due to lrrc8a defect

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • High palate
  • Epicanthus
  • Agammaglobulinemia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61

AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • High palate
  • Hypertension
  • Dilatation
  • Pectus excavatum
  • Stroke


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9

Related symptoms:

  • High palate
  • Glaucoma
  • Osteopenia
  • Photophobia
  • Corneal opacity


SOURCES: MESH OMIM MENDELIAN

More info about GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • High palate


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 90; MRX90

Top 5 symptoms//phenotypes associated to High palate and Abnormality of the eye

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases
Pectus carinatum Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Arachnodactyly Intellectual disability, severe Narrow chest Prominent nasal bridge Thick vermilion border Prominent forehead Kyphosis Long face Hypoplasia of the maxilla Intellectual disability, mild Mandibular prognathia Scoliosis Frontal bossing Macrocephaly Primary congenital glaucoma Buphthalmos Increased intraocular pressure Congenital glaucoma Disproportionate tall stature Epiphora Ectopia lentis Tall stature Narrow face Abnormality of the musculature Growth abnormality Cleft lip Upslanted palpebral fissure Behavioral abnormality Delayed speech and language development Strabismus Global developmental delay Small pituitary gland Hyposmia Anosmia Hypogonadotrophic hypogonadism Primary amenorrhea Micropenis Nasal speech Hypogonadism Delayed skeletal maturation Cryptorchidism Cleft palate Sensorineural hearing impairment Hearing impairment Slender build Long foot Corneal opacity Abnormality of the sternum Joint hypermobility Paroxysmal atrial fibrillation Photophobia Pericardial effusion Large hands Protruding ear Abnormality of the pinna Pes planus Macrotia Clinodactyly Short stature Posterior choanal atresia Hypoplastic nipples Lymphedema Low-set ears Choanal atresia Limb muscle weakness Facial palsy Respiratory insufficiency Dysphagia Fatigue Motor delay Feeding difficulties Ptosis Hypertelorism Epicanthus Osteopenia Stroke Glaucoma Thoracic aortic aneurysm Muscle weakness Aortic dissection Aortic aneurysm Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Mitral valve prolapse Dilatation Agammaglobulinemia Hypertension Open mouth Intellectual disability, profound Narrow forehead Generalized-onset seizure Epileptic encephalopathy Encephalopathy Cerebral atrophy Spasticity Microcephaly Enuresis


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