High palate, and Hypoglycemia

Diseases related with High palate and Hypoglycemia

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

Top matches:

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Medium match HYDRANENCEPHALY

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Medium match SOTOS SYNDROME

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape Growth delay Failure to thrive Feeding difficulties in infancy Hirsutism Strabismus Precocious puberty Behavioral abnormality Retrognathia High, narrow palate Broad nasal tip Hypertelorism Hernia Micrognathia Short philtrum Intrauterine growth retardation Mandibular prognathia Depressed nasal bridge Neonatal hypoglycemia Low-set ears Muscular hypotonia

Rare Symptoms - Less than 30% cases

Open mouth Thin upper lip vermilion Cholestasis Macrotia Joint laxity Gastroesophageal reflux Osteopenia Inguinal hernia Cerebral atrophy Protruding ear Delayed myelination Wide mouth Small for gestational age Cryptorchidism Atrial septal defect Abdominal distention Insulin resistance Hyperglycemia Long foot Hyperinsulinemia Fasting hypoglycemia Brachycephaly Long penis Advanced eruption of teeth Optic atrophy Acanthosis nigricans Myopia Coarse facial features Hypertrichosis Brachydactyly Upslanted palpebral fissure Neoplasm Postprandial hyperglycemia Scoliosis Severe short stature Epidermal acanthosis Clitoral hypertrophy Hypothyroidism Recurrent infections Narrow forehead Vomiting Dolichocephaly Cleft palate Highly arched eyebrow Skeletal muscle atrophy Dysphagia Flexion contracture Hyperactivity Hypertension Anteverted nares Hypoplasia of the corpus callosum Hypodontia Diabetic ketoacidosis Abnormal cardiac septum morphology Craniosynostosis Conductive hearing impairment EEG abnormality Thin eyebrow Choroideremia Abnormal lip morphology High forehead Prominent forehead Chorioretinal dystrophy Dental malocclusion Pulmonic stenosis Patent ductus arteriosus Muscle flaccidity Ventriculomegaly Abnormality of upper lip Onychauxis Hypospadias Obesity Thick nail Small face Genu valgum Aplasia/Hypoplasia of the corpus callosum Neoplasm of the nervous system Microcornea Renal duplication Multiple renal cysts Sepsis Specific learning disability Microdontia Short palpebral fissure Abnormality of the ureter Abnormality of immune system physiology Genu varum Preauricular skin tag Narrow face Accelerated skeletal maturation Abnormality of the optic nerve Abnormality of the fingernails Lipodystrophy Congenital hip dislocation Tall stature Absent eyebrow Flat occiput Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Ketoacidosis Depressed nasal ridge Vesicoureteral reflux Coarctation of aorta Otitis media Cupped ear Recurrent otitis media Cachexia Prominent nipples Long face Adipose tissue loss Thick lower lip vermilion Elfin facies Gingival overgrowth Female pseudohermaphroditism Absence of subcutaneous fat Hepatic fibrosis Gynecomastia Generalized hirsutism Cutis laxa Large hands Hyperreflexia Glucose intolerance Decreased muscle mass Hypermelanotic macule Reduced subcutaneous adipose tissue Pancreatic islet-cell hyperplasia Lipoatrophy Abnormality of the abdominal wall Severe intrauterine growth retardation Hearing abnormality Thickened nuchal skin fold Thick nasal alae Severe failure to thrive Ovarian cyst Asymmetry of the breasts Type II diabetes mellitus Decreased body weight Long hallux Long eyelashes Concave nasal ridge Atrioventricular canal defect Long palpebral fissure Frontal bossing Natal tooth Central hypotonia Short columella Depressed nasal tip Short 5th finger Generalized joint laxity Sparse lateral eyebrow Prominent fingertip pads Nail dysplasia Abnormality of the breast Eversion of lateral third of lower eyelids Cognitive impairment Downslanted palpebral fissures Delayed skeletal maturation Recurrent respiratory infections Hyperkeratosis Proptosis Macrocephaly Umbilical hernia Low-set, posteriorly rotated ears Postnatal growth retardation Thick vermilion border Thin vermilion border Hypermetropia Dry skin Paraparesis Submucous cleft soft palate Ataxia Spasticity Hydrocephalus Long philtrum Absent speech Apnea Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Inability to walk Apraxia Clumsiness Postnatal microcephaly Bradycardia Hyperbilirubinemia Broad eyebrow Laryngomalacia Impulsivity Inverted nipples Pontocerebellar atrophy Ganglioneuroblastoma Anemia Respiratory insufficiency Deeply set eye Elevated hepatic transaminase Abnormality of the eye Abnormality of the liver Cough Abnormality of eye movement Cirrhosis Tented philtrum Oral-pharyngeal dysphagia Ascites Hypothermia Pain Ptosis Peripheral neuropathy Myalgia Abnormality of the nervous system Vertigo Syncope Hypotension Dehydration Abnormal autonomic nervous system physiology Epiphora Blurred vision Orthostatic hypotension Amyloidosis Recurrent hypoglycemia Spinal muscular atrophy Multiple myeloma Nocturia Intermittent hypothermia Retrograde ejaculation Muscle weakness Intellectual disability, severe Depressivity Babinski sign Neonatal hypotonia Poor speech Thick eyebrow Sacral dimple Tented upper lip vermilion Dysphonia Hepatic steatosis Oligohydramnios Arachnodactyly Cone/cone-rod dystrophy Rod-cone dystrophy Posteriorly rotated ears Narrow mouth Autism Coloboma Astigmatism Iris coloboma Downturned corners of mouth Focal-onset seizure Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Cerebral visual impairment Pointed chin Abnormality of the outer ear Abnormal electroretinogram Midface retrusion Focal impaired awareness seizure Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Hypoglycemic seizures Nystagmus Epicanthus Respiratory distress Abnormality of the dentition Respiratory failure Dyspnea Telecanthus Blepharophimosis Smooth philtrum Constipation Abnormality of cardiovascular system morphology Pancytopenia Abnormality of the skeletal system Abnormal lung morphology Decreased liver function Hypocalcemia Tachypnea Hypoalbuminemia Portal hypertension Rickets Interstitial pulmonary abnormality Bile duct proliferation Vitamin D deficiency Anasarca Vitamin A deficiency Small scrotum Wide nasal bridge Short nose Blindness Nephrocalcinosis Short neck Sensorineural hearing impairment Hearing impairment Congenital neutropenia Buphthalmos Congenital glaucoma Limb undergrowth Glaucoma Neutropenia Severe global developmental delay Hip dislocation Broad forehead Kyphoscoliosis Polyhydramnios Sacrococcygeal teratoma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Skin rash, related diseases and genetic alterations Edema and Retinal detachment, related diseases and genetic alterations Cardiomyopathy and Fatigue, related diseases and genetic alterations Failure to thrive and Microtia, related diseases and genetic alterations Nystagmus and Hydrocephalus, related diseases and genetic alterations Ataxia and Hepatosplenomegaly, related diseases and genetic alterations