Macrocephaly, and Insulin resistance

Diseases related with Macrocephaly and Insulin resistance

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


Top matches:

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT 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

Medium match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

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Other less relevant matches:

Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1


MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Low match SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Low match PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME


Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY


Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Low match PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME


Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Insulin resistance

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Intrauterine growth retardation Hearing impairment Micrognathia Insulin-resistant diabetes mellitus Severe short stature Osteoporosis Growth delay Small for gestational age Motor delay Seizures Hypogonadism Decreased body weight Delayed eruption of teeth Hypodontia Acanthosis nigricans Triangular face Delayed puberty Congestive heart failure Ptosis Cardiomyopathy Abnormality of the skeletal system Hypertension Flexion contracture Scoliosis Neoplasm Osteopenia Hyperglycemia Sensorineural hearing impairment Macrotia Hypoglycemia Prominent forehead Midface retrusion Malar flattening Cataract

Rare Symptoms - Less than 30% cases


Frontal bossing Hypoplasia of the corpus callosum Wide nasal bridge Ataxia Osteolysis Myopia Feeding difficulties Hypoplastic facial bones Peripheral neuropathy Narrow chest Abnormality of the dentition Metaphyseal widening Generalized hypotonia Depressivity Hernia Skeletal muscle atrophy Joint laxity Low-set ears Cyanosis Premature ovarian insufficiency Slender long bone Hypertelorism Congenital hypothyroidism Dental crowding Type II diabetes mellitus Severe intrauterine growth retardation Growth hormone deficiency Joint stiffness Prominent superficial veins Nevus Generalized osteoporosis Truncal obesity Infertility Broad forehead Optic atrophy Clinodactyly Neonatal insulin-dependent diabetes mellitus Myopathy Lipodystrophy Deeply set eye Conductive hearing impairment Hip dislocation Hypotrichosis Narrow mouth Downturned corners of mouth Hypertriglyceridemia Alopecia Bilateral sensorineural hearing impairment Thin skin Delayed skeletal maturation Increased body weight Convex nasal ridge Short chin Inguinal hernia Radial deviation of finger Hepatic steatosis Glycosuria Behavioral abnormality Abnormal heart morphology Intellectual disability, mild Hypergonadotropic hypogonadism Lipoatrophy Reduced subcutaneous adipose tissue Kyphosis High pitched voice Glucose intolerance Stereotypy Centrally nucleated skeletal muscle fibers Specific learning disability Insulin-resistant diabetes mellitus at puberty Orofacial dyskinesia Dyskinesia Peripheral axonal neuropathy Abnormality of extrapyramidal motor function Abnormal trabecular bone morphology Difficulty running Difficulty walking Regional abnormality of skin Abnormal posturing Abnormal basal ganglia MRI signal intensity Arteriosclerosis of small cerebral arteries Progressive extrapyramidal movement disorder Elevated serum creatine phosphokinase Tapering pointed ends of distal finger phalanges Resting tremor Mildly elevated creatine phosphokinase Involuntary movements Proximal muscle weakness Muscle weakness Tremor Increased variability in muscle fiber diameter Dystonia Progressive extrapyramidal muscular rigidity Chorea Ophthalmoplegia Narrow nasal ridge Absence of pubertal development Short clavicles Angina pectoris Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Renal cell carcinoma Small face Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Scleroderma Exertional dyspnea Prolonged QT interval Premature graying of hair Multiple joint contractures Heart murmur Abnormality of the thorax Hyperinsulinemia Lack of skin elasticity Aplasia/Hypoplasia of the earlobes Carotid artery stenosis Corneal arcus Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Prominent scalp veins Bird-like facies Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Sinus tachycardia Precocious atherosclerosis Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Aplastic clavicle Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Central core regions in muscle fibers Pectus carinatum Short neck Abnormal cardiac septum morphology Hyperbilirubinemia Cardiac arrest Congenital diaphragmatic hernia Oligohydramnios Hepatitis Tetralogy of Fallot Intestinal malrotation Gliosis Pulmonic stenosis Elevated hepatic transaminase Transposition of the great arteries Neonatal hypotonia Umbilical hernia Patent ductus arteriosus Cerebral atrophy Atrial septal defect Respiratory distress Ventricular septal defect Congenital bilateral ptosis Small placenta Prelingual sensorineural hearing impairment Patent foramen ovale Exocrine pancreatic insufficiency Concave nasal ridge Microcolon Colon perforation Congenital defect of the pericardium Hypoplastic tricuspid valve Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Intermittent diarrhea Pulmonary artery stenosis Pancreatic hypoplasia Cervical ribs Biliary atresia Perimembranous ventricular septal defect Interrupted aortic arch Ureteral duplication Prolonged partial thromboplastin time Mild microcephaly Single umbilical artery Truncus arteriosus Neonatal hyperbilirubinemia Short attention span Wide nose Microretrognathia Elevated serum alanine aminotransferase Elevated serum aspartate aminotransferase Abdominal aortic aneurysm Acute pancreatitis Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Skin tags Cone-shaped epiphysis Aortic aneurysm Ventricular hypertrophy Obesity Retinal detachment Dilatation Delayed thelarche Dorsocervical fat pad Hyperinsulinemic hypoglycemia Maternal diabetes Ketoacidosis Absence seizures Primary amenorrhea Amenorrhea Talipes equinovarus Cerebellar hypoplasia Severe postnatal growth retardation Abnormality of metabolism/homeostasis Abnormality of the mouth Congenital sensorineural hearing impairment Low anterior hairline Cafe-au-lait spot Low posterior hairline Single transverse palmar crease Attention deficit hyperactivity disorder Postnatal growth retardation Hyperactivity Clinodactyly of the 5th finger Aplasia/Hypoplasia of the pancreas Apnea Cerebellar agenesis Meconium ileus Ileus Secundum atrial septal defect Overlapping fingers Bilateral talipes equinovarus Optic nerve hypoplasia Talipes Nasal speech Abnormality of the pinna Intracranial hemorrhage Abnormal glucose tolerance Dermal atrophy Pigmentary retinopathy Microglossia Scaphocephaly Pericarditis Pulmonary fibrosis Nephroblastoma Cachexia Reduced tendon reflexes Pointed chin Epidermal acanthosis Overgrowth Weak voice Decreased antibody level in blood Abdominal distention Ascites Cirrhosis Astigmatism Dolichocephaly Retinopathy Intellectual disability, moderate Abnormality of the nervous system Myocardial fibrosis Fibroma Edema Hydrocephalus Brachycephaly Pes cavus Agenesis of corpus callosum Babinski sign Areflexia Pectus excavatum Microphthalmia Hypertonia Intellectual disability, severe Anteverted nares Peripheral edema Gait disturbance Downslanted palpebral fissures Anemia Cryptorchidism Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Hepatosplenomegaly Ventriculomegaly Autism Short palm Abnormality of dental enamel Nephrocalcinosis Congenital hip dislocation Abnormality of the face Microdontia Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Microcornea Joint hypermobility Prominent supraorbital ridges Joint hyperflexibility Neurological speech impairment Corneal opacity Telecanthus Weight loss Glaucoma Brachydactyly Delayed speech and language development Nystagmus Opacification of the corneal stroma Congenital glaucoma Dysarthria Abnormality of the mandible Hepatomegaly Depressed nasal bridge High palate Muscular hypotonia Strabismus Abnormality of the zygomatic bone Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Narrow naris Abnormality of the immune system Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Megalocornea Poor appetite Gait ataxia Hypothyroidism Relative macrocephaly Superiorly displaced ears Stroke Sparse hair Hypertrophic cardiomyopathy Carcinoma Dyspnea Proptosis Dementia Short nose Pain Calcification of the auricular cartilage Dilated cardiomyopathy Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Narrow iliac wings Microtia Hypermetropia Recurrent ear infections Sparse and thin eyebrow Hypercholesterolemia Hyperlipidemia Atherosclerosis Aminoaciduria Coxa valga Hypogonadotrophic hypogonadism Increased bone mineral density Aspiration Aortic valve stenosis Hypohidrosis Carious teeth Left ventricular hypertrophy Broad-based gait Osteoarthritis Myocardial infarction Cardiomegaly Abnormality of the cardiovascular system Nail dysplasia Limitation of joint mobility Chest pain Thin vermilion border Ectopic calcification Bone cyst Aggressive behavior Hypoplasia of the maxilla Gynecomastia Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Bradykinesia Cerebral calcification Hip dysplasia Otitis media Neurodegeneration Paraparesis Short distal phalanx of finger Distal amyotrophy Genu valgum Synophrys Congenital cataract Prominent nasal bridge Abnormal pyramidal sign Protruding ear Developmental regression Clonus Knee flexion contracture Tics Sparse body hair Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Restlessness Striae distensae Hip contracture Basal ganglia calcification Spastic paraparesis Ankle clonus Mixed hearing impairment Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Total absence of the pericardium



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