Abnormal facial shape, and Insulin resistance

Diseases related with Abnormal facial shape and Insulin resistance

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


Top matches:

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 CLOVES SYNDROME


CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

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Other less relevant matches:

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 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD


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

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB


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

Low match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Insulin resistance

Symptoms // Phenotype % cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Acanthosis nigricans Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hyperinsulinemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Insulin resistance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lipodystrophy Ptosis Intellectual disability Hepatic steatosis Diabetes mellitus Lipoatrophy Global developmental delay High palate Generalized lipodystrophy Hyperactivity Hypoglycemia Splenomegaly Myopathy Microcephaly Hepatomegaly Seizures Reduced subcutaneous adipose tissue Polycystic ovaries Hyperglycemia Insulin-resistant diabetes mellitus Failure to thrive Flexion contracture Glucose intolerance Hypertension

Rare Symptoms - Less than 30% cases


Increased intraabdominal fat Triangular face Severe intrauterine growth retardation Postnatal growth retardation Attention deficit hyperactivity disorder Osteolytic defects of the phalanges of the hand Delayed speech and language development Respiratory insufficiency Convex nasal ridge Joint stiffness Cognitive impairment Cafe-au-lait spot Osteopenia Thin skin Narrow nasal ridge Respiratory failure Acroosteolysis of distal phalanges (feet) Clinodactyly Intellectual disability, mild Behavioral abnormality Loss of subcutaneous adipose tissue in limbs Cirrhosis Motor delay Obesity Generalized hirsutism Intrauterine growth retardation Reduced intrathoracic adipose tissue Increased adipose tissue around the neck Short chin Short stature Nystagmus Generalized hypotonia Scoliosis Macrotia Pancreatitis Acute pancreatitis Epidermal acanthosis Skeletal muscle hypertrophy Short nose Hirsutism Hypertrophic cardiomyopathy Abnormality of the skeletal system Glycosuria Cryptorchidism Cardiomyopathy Congestive heart failure Decreased serum leptin Round face Severe short stature Horizontal eyebrow Nephrolithiasis Abnormality of the genital system Long toe Dermal atrophy Hypertrichosis Umbilical hernia Premature loss of teeth Abnormally large globe Brittle hair Delayed cranial suture closure Hernia Elevated hepatic transaminase Mandibular prognathia Short clavicles Narrow nose Labial hypertrophy Accelerated skeletal maturation Tall stature Long foot Prominent umbilicus Generalized muscular appearance from birth Alopecia Narrow mouth Congenital generalized lipodystrophy Proptosis Retrognathia Decreased fertility in females Thick hair Bone cyst Sparse hair Abnormality of skin pigmentation Decreased fertility Hypercholesterolemia Polyphagia Full cheeks Premature birth Nail dysplasia High pitched voice Dental crowding Large hands Short phalanx of finger Clitoral hypertrophy Wormian bones Insulin-resistant diabetes mellitus at puberty Hyperlipidemia Cystic angiomatosis of bone Prominent superficial blood vessels Hypoplastic fingernail Muscular dystrophy Generalized muscle weakness Long face Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Dilated cardiomyopathy Facial palsy Decreased fetal movement Muscular hypotonia of the trunk Joint laxity Proximal muscle weakness Neonatal hypotonia Areflexia Dysphagia Skeletal muscle atrophy Waddling gait Lumbar hyperlordosis Muscle weakness Weak cry Postprandial hyperglycemia Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Difficulty running Centrally nucleated skeletal muscle fibers Bulbar palsy Atrial fibrillation Multiple joint contractures Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Congenital hip dislocation Narrow face Progressive muscle weakness Clumsiness Feeding difficulties Proximal upper limb muscle hypertrophy Abnormality of the neck Progressive clavicular acroosteolysis Facial shape deformation Decreased adipose tissue around neck Abnormal tongue morphology Loss of truncal subcutaneous adipose tissue Increased circulating free fatty acid level Increased subcutaneous truncal adipose tissue Loss of facial adipose tissue Abnormality of the nail Osteolytic defects of the distal phalanges of the hand Bird-like facies Contractures of the large joints Mottled pigmentation Abnormality of hair texture Poor wound healing Hypoplasia of teeth Myalgia Atherosclerosis Muscle hypertrophy of the lower extremities Advanced eruption of teeth Increased facial adipose tissue Decreased adiponectin level Minimal subcutaneous fat Accelerated atherosclerosis Dysmenorrhea Abnormal atrioventricular conduction Supraventricular arrhythmia Decreased HDL cholesterol concentration Ventricular arrhythmia Precocious atherosclerosis Xanthomatosis Progeroid facial appearance Secondary amenorrhea Aplasia/Hypoplasia of the skin Coronary artery atherosclerosis Premature graying of hair Cavum septum pellucidum Congenital bilateral ptosis Impulsivity Dystonia Epidermal nevus Hemimegalencephaly Macrodactyly Encephalomalacia Epididymal cyst Splayed toes Enlarged peripheral nerve Pelvic mass Ataxia Spasticity Hyperreflexia Tremor Cerebellar atrophy Hypertonia Cerebral atrophy Capillary malformation Sleep disturbance Loss of speech Limb dystonia Brisk reflexes Tetraparesis Status epilepticus Neuronal loss in central nervous system Abnormal pyramidal sign Encephalopathy Respiratory tract infection Developmental regression Mental deterioration Coarse facial features Gait ataxia Myoclonus Cranial asymmetry Venous malformation Progressive psychomotor deterioration Slender long bone Elevated serum alanine aminotransferase Elevated serum aspartate aminotransferase Abdominal aortic aneurysm Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Skin tags Cone-shaped epiphysis Constipation Aortic aneurysm Metaphyseal widening Microretrognathia Ventricular hypertrophy Retinal detachment Dilatation Cataract Agenesis of corpus callosum Cranial hyperostosis Renal hypoplasia/aplasia Spinal dysraphism Tethered cord Hemihypertrophy Lower limb asymmetry Lipoma Partial agenesis of the corpus callosum Sandal gap Congenital cataract Horizontal nystagmus Generalized-onset seizure Overgrowth Renal agenesis Nevus Facial asymmetry Progressive encephalopathy Caudate atrophy Easy fatigability Prelingual sensorineural hearing impairment Long philtrum Anteverted nares Epicanthus Strabismus Hypertelorism Small placenta Neonatal hyperbilirubinemia Upslanted palpebral fissure Concave nasal ridge Short attention span Severe postnatal growth retardation Abnormality of the mouth Truncal obesity Congenital sensorineural hearing impairment Syndactyly High forehead Low anterior hairline Joint hypermobility Delayed gross motor development Stereotypy Broad-based gait Tapered finger Thick vermilion border Thick eyebrow Thin vermilion border Deeply set eye Synophrys Hypermetropia Short philtrum Blepharophimosis Aggressive behavior Anxiety Radial deviation of finger Decreased body weight Poor motor coordination Pectus carinatum Secundum atrial septal defect Overlapping fingers Bilateral talipes equinovarus Optic nerve hypoplasia Type II diabetes mellitus Talipes Abnormality of the pinna Neonatal insulin-dependent diabetes mellitus Apnea Cerebellar hypoplasia Talipes equinovarus Optic atrophy Low-set ears Reduced intraabdominal adipose tissue Ileus Meconium ileus Low posterior hairline Prominent forehead Bilateral sensorineural hearing impairment Delayed eruption of teeth Single transverse palmar crease Small for gestational age Hypogonadism Osteoporosis Clinodactyly of the 5th finger Cerebellar agenesis Delayed skeletal maturation Abnormality of metabolism/homeostasis Myopia Sensorineural hearing impairment Hearing impairment Aplasia/Hypoplasia of the pancreas Type 1 fibers relatively smaller than type 2 fibers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Thick vermilion border, related diseases and genetic alterations Intellectual disability, severe and Delayed myelination, related diseases and genetic alterations Hyperreflexia and Leukodystrophy, related diseases and genetic alterations Delayed speech and language development and Single transverse palmar crease, related diseases and genetic alterations Cleft palate and Situs inversus totalis, related diseases and genetic alterations

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