High palate, and Insulin resistance

Diseases related with High palate and Insulin resistance

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

Top matches:

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Related symptoms:

  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Other less relevant matches:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia

Related symptoms:

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

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 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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Top 5 symptoms//phenotypes associated to High palate and Insulin resistance

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Insulin-resistant diabetes mellitus Common - Between 50% and 80% cases
Hyperglycemia Uncommon - Between 30% and 50% cases
Epidermal acanthosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Micrognathia Acanthosis nigricans Hyperinsulinemia Flexion contracture Failure to thrive Retrognathia Hyperlipidemia Postnatal growth retardation Diabetes mellitus Glucose intolerance Generalized hypotonia Alopecia Hypertelorism Proptosis Cryptorchidism Abnormal facial shape Small for gestational age Delayed puberty Abdominal distention Strabismus Dermal atrophy Osteolytic defects of the distal phalanges of the hand Dental crowding Acroosteolysis of distal phalanges (feet) Precocious puberty Intrauterine growth retardation Abnormality of the dentition Global developmental delay Thin skin Hirsutism Wormian bones Feeding difficulties Hearing impairment Postprandial hyperglycemia Short nose Neoplasm Sparse hair Lipodystrophy

Rare Symptoms - Less than 30% cases

Convex nasal ridge Increased body weight Hypotrichosis Hypertriglyceridemia Nail dysplasia Hypertrichosis Full cheeks Abnormality of skin pigmentation Joint stiffness Narrow mouth Abnormality of the skeletal system High pitched voice Clitoral hypertrophy Delayed cranial suture closure Osteolytic defects of the phalanges of the hand Lipoatrophy Edema Muscle weakness Skeletal muscle atrophy Dysphagia Cardiomyopathy Myopathy Respiratory failure Proximal muscle weakness Hypoglycemia Muscular dystrophy Microcephaly Sparse scalp hair Long face Premature ovarian insufficiency Narrow face Scoliosis Wide mouth Short clavicles Narrow nasal ridge Premature loss of teeth Narrow nose Sepsis Flat occiput Hypoplasia of teeth High, narrow palate Generalized lipodystrophy Progressive clavicular acroosteolysis Loss of subcutaneous adipose tissue in limbs Mottled pigmentation Bird-like facies Triangular face Increased adipose tissue around the neck Dental malocclusion Absent eyebrow Prominent superficial veins Hypoplastic fingernail Depressed nasal bridge Hyperpigmentation of the skin Blepharophimosis Short distal phalanx of finger Frontal bossing Cataract Muscular hypotonia Reduced subcutaneous adipose tissue Hypermelanotic macule Cognitive impairment Dysarthria Prematurely aged appearance Cachexia Upslanted palpebral fissure Severe short stature Round face Hyperkeratosis Thick vermilion border High forehead Macrotia Thin vermilion border Type II diabetes mellitus Osteolysis Large fontanelles Epicanthus Umbilical hernia Nystagmus Ptosis Gingival overgrowth Long foot Dehydration Motor delay Fasting hypoglycemia Long penis Joint laxity Prominent nose Short philtrum Progeroid facial appearance Hepatomegaly Aplasia/Hypoplasia of the clavicles Breast aplasia Delayed speech and language development Hypogonadism Female pseudohermaphroditism Absence of subcutaneous fat Psychosis Pancreatic islet-cell hyperplasia Small face Sparse eyebrow Fine hair Hallucinations Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Abnormality of the abdominal wall Primary amenorrhea Myocardial infarction Thick nasal alae Ovarian cyst Choreoathetosis Seizures Elfin facies Diarrhea Protruding ear Camptodactyly Hypoplasia of the uterus Arthrogryposis multiplex congenita Mental deterioration Hypothyroidism Micropenis Babinski sign Abnormality of metabolism/homeostasis Intellectual disability, mild Abnormality of movement Dystonia Gait disturbance Adipose tissue loss Downslanted palpebral fissures Sensory neuropathy Hyperreflexia Peripheral neuropathy Sensorineural hearing impairment Polyneuropathy Prominent nasal bridge Asymmetry of the breasts Prominent nipples Decreased testicular size Amenorrhea Bilateral sensorineural hearing impairment Abnormality of extrapyramidal motor function Aplasia/Hypoplasia of the eyebrow Nevus Autoimmune thrombocytopenia Hypertension Nail dystrophy Scarring Paralysis Abnormality of the kidney Rigidity Osteoporosis Hypospadias Pain Abnormality of the cardiovascular system Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Abnormality of the skin Nephrotic syndrome Microglossia Broad distal phalanx of finger Foamy urine Increased facial adipose tissue Abnormality of the fingertips Foot pain Thin clavicles Limb-girdle muscle atrophy Hematemesis Wide cranial sutures Calcinosis Atherosclerosis Vertebral compression fractures Down-sloping shoulders Arthropathy Spinal rigidity Focal segmental glomerulosclerosis Hyperostosis Congenital muscular dystrophy Glomerulosclerosis Myocardial fibrosis Scaphocephaly Heart block Hypoplasia of the fallopian tube Depressivity Congestive heart failure Hypoplasia of the corpus callosum Ventriculomegaly Macrocephaly Wide nasal bridge Progressive alopecia Progressive extrapyramidal movement disorder Abnormality of the nervous system Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Hepatosplenomegaly Intellectual disability, moderate Pericarditis Growth hormone deficiency Slender long bone Pulmonary fibrosis Nephroblastoma Reduced tendon reflexes Pointed chin Pigmentary retinopathy Overgrowth Cyanosis Decreased antibody level in blood Retinopathy Severe failure to thrive Ascites Hypodontia Cirrhosis Astigmatism Infertility Dolichocephaly Broad forehead Concave nasal ridge Coarse facial features Thickened nuchal skin fold Small anterior fontanelle Short chin Short phalanx of finger Premature birth Abnormality of the placenta Labial hypertrophy Neonatal insulin-dependent diabetes mellitus Abdominal wall defect Brittle hair Abnormality of earlobe Shallow orbits Prominent occiput Neonatal respiratory distress Abnormality of the face Cardiomegaly Hypercholesterolemia Abnormally large globe Generalized myoclonic seizures Increased circulating free fatty acid level Areflexia Respiratory insufficiency Facial shape deformation Decreased adipose tissue around neck Abnormal tongue morphology Loss of truncal subcutaneous adipose tissue Increased subcutaneous truncal adipose tissue Abnormality of the neck Reduced intrathoracic adipose tissue Prominent superficial blood vessels Increased intraabdominal fat Loss of facial adipose tissue Contractures of the large joints Abnormality of hair texture Poor wound healing Oligohydramnios Macroglossia Neonatal hypotonia Deeply set eye Joint hypermobility Synophrys Hypermetropia Attention deficit hyperactivity disorder Aggressive behavior Anxiety Hyperactivity Tapered finger Clinodactyly Obesity Syndactyly Long philtrum Behavioral abnormality Anteverted nares Thick eyebrow Broad-based gait Patent ductus arteriosus Arthralgia Ventricular septal defect Lack of skin elasticity Abnormal eyebrow morphology Absent eyelashes Abnormality of the musculature Limitation of joint mobility Horizontal eyebrow Stereotypy Long toe Cavum septum pellucidum Impulsivity Polycystic ovaries Easy fatigability Delayed gross motor development Cafe-au-lait spot Osteopenia Muscular hypotonia of the trunk Hearing abnormality Advanced eruption of teeth Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Thick nail Onychauxis Abnormality of the optic nerve Ketoacidosis Protuberant abdomen Ovarian neoplasm Preauricular skin tag Short palpebral fissure Abnormality of upper lip Low-set ears Specific learning disability Hepatic fibrosis Severe intrauterine growth retardation Decreased muscle mass Large hands Cutis laxa Generalized hirsutism Gynecomastia Cholestasis Recurrent infections Thick lower lip vermilion Feeding difficulties in infancy Low-set, posteriorly rotated ears Recurrent respiratory infections Delayed skeletal maturation Inguinal hernia Hernia Microdontia Microcornea Facial palsy Atrial fibrillation Multiple joint contractures Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Congenital hip dislocation Progressive muscle weakness Clumsiness Lumbar hyperlordosis Glycosuria Decreased fetal movement Waddling gait Generalized muscle weakness Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Dilated cardiomyopathy Bulbar palsy Weak cry Dry skin Respiratory distress Arachnodactyly Smooth philtrum Telecanthus Dyspnea Mandibular prognathia Brachycephaly Optic atrophy Centrally nucleated skeletal muscle fibers Myopia Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Difficulty running Stiff elbow


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