Flexion contracture, and Diabetes mellitus

Diseases related with Flexion contracture and Diabetes mellitus

In the following list you will find some of the most common rare diseases related to Flexion contracture and Diabetes mellitus that can help you solving undiagnosed cases.

Top matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Other less relevant matches:

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN 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

Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

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

Top 5 symptoms//phenotypes associated to Flexion contracture and Diabetes mellitus

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hyperglycemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Type II diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arthrogryposis multiplex congenita Peripheral neuropathy Motor delay Muscular hypotonia Hearing impairment Short chin Joint stiffness Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Generalized myoclonic seizures Micrognathia Short nose Camptodactyly of finger Bilateral ptosis Apraxia Dehydration Coma Neurodevelopmental delay Downturned corners of mouth Round face Generalized tonic-clonic seizures Weight loss Abnormal heart morphology Maternal diabetes Insulin resistance Talipes equinovarus Glycosuria Short stature Acanthosis nigricans Seizures Lipoatrophy Lipodystrophy Sensorineural hearing impairment Scoliosis Contractures of the joints of the lower limbs Growth delay Neonatal insulin-dependent diabetes mellitus Generalized hypotonia Hypovolemia Abnormality of the upper urinary tract Ketonuria Renal tubular dysfunction Prominent metopic ridge Convex nasal ridge Autoimmune antibody positivity Type I diabetes mellitus Sensory neuropathy Ataxia Muscle weakness Myopathy Hyporeflexia Proptosis Low-set ears Abnormal facial shape Reduced intrathoracic adipose tissue Ichthyosis Prominent superficial blood vessels Cerebral calcification Bilateral sensorineural hearing impairment Abnormal toenail morphology Abnormal eyelid morphology Primary amenorrhea Hypoplasia of dental enamel Abnormal eyebrow morphology Amelogenesis imperfecta Abnormality of dental enamel Progressive clavicular acroosteolysis Abnormality of the fingernails Hypogonadism Acroosteolysis of distal phalanges (feet) Increased intraabdominal fat Large hands Macular dystrophy Taurodontia External genital hypoplasia Brittle hair Abnormality of the dentition Increased subcutaneous truncal adipose tissue Abnormal tongue morphology Abnormality of the hip bone Aplasia/Hypoplasia of the radius Abnormality of the lower limb Abnormality of the upper limb Intestinal atresia Decreased adipose tissue around neck Skin dimples Abnormality of the shoulder Gastric ulcer Congenital muscular torticollis Delayed skeletal maturation Loss of truncal subcutaneous adipose tissue Abnormality of calvarial morphology Abnormality of mesentery morphology Increased circulating free fatty acid level Steatorrhea Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Elevated hemoglobin A1c High anterior hairline Arrhythmia Increased adipose tissue around the neck Loss of facial adipose tissue Pili torti Premature loss of teeth Abnormality of hair texture Poor wound healing Hypoplasia of teeth Abnormality of the neck Hypoplastic fingernail Osteolytic defects of the phalanges of the hand Abnormally large globe Narrow nose Hypertriglyceridemia Insulin-resistant diabetes mellitus Narrow nasal ridge Thin skin Short clavicles Dental crowding Delayed cranial suture closure Glucose intolerance Short phalanx of finger Wormian bones Hyperlipidemia Hypercholesterolemia Dermal atrophy Hemiplegia/hemiparesis Epidermal acanthosis Thin eyebrow Retrognathia Leukonychia Hyperinsulinemia Abnormal hair quantity Abnormal nasolacrimal system morphology Muscle flaccidity Abnormality of nail color High palate Abnormality of the skeletal system Alopecia Narrow mouth Postnatal growth retardation Generalized lipodystrophy Sparse hair Abnormality of skin pigmentation Osteolytic defects of the distal phalanges of the hand Bird-like facies Full cheeks Contractures of the large joints Mottled pigmentation Premature birth Loss of subcutaneous adipose tissue in limbs Nail dysplasia Multiple joint contractures Talipes Rocker bottom foot Proximal amyotrophy Proximal muscle weakness Myalgia Facial palsy Limb muscle weakness Progressive muscle weakness Exercise intolerance Ragged-red muscle fibers EMG: myopathic abnormalities Mitochondrial myopathy Peripheral arterial stenosis Elevated serum creatine phosphokinase Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Intellectual disability, severe Retinopathy Peripheral axonal neuropathy Microalbuminuria Pancreatic hypoplasia Reduced pancreatic beta cells Strabismus Hypertension Difficulty walking Fatigue Severe short stature Autoimmunity Hepatomegaly Macrocephaly Frontal bossing Diarrhea Splenomegaly Clinodactyly Posteriorly rotated ears Respiratory failure Hypothyroidism Camptodactyly Dolichocephaly Dysarthria Malabsorption Asthma Hepatitis Abnormal lung morphology Chronic diarrhea Abnormal intestine morphology Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Midface retrusion Glaucoma Congenital contracture Cerebellar agenesis Pectus carinatum Triangular face Optic nerve hypoplasia Bilateral talipes equinovarus Reduced subcutaneous adipose tissue Severe intrauterine growth retardation Overlapping fingers Secundum atrial septal defect Ileus Meconium ileus Aplasia/Hypoplasia of the pancreas Apnea Skeletal muscle atrophy Abnormality of cardiovascular system morphology Hernia Craniosynostosis Hip dislocation Facial asymmetry Micromelia Hip dysplasia Oligohydramnios Elbow flexion contracture Abnormality of the pinna Hypoglycemia Paralysis Multiple lipomas Narrow chest Retinal detachment Limitation of joint mobility Hypertrichosis Subcutaneous nodule Thickened skin Nephrolithiasis Ectopia lentis Mild short stature Decreased muscle mass Aplasia/Hypoplasia of the skin Cerebellar hypoplasia Scleroderma Abnormality of the musculature Impaired pain sensation Abnormality of lipid metabolism Lack of skin elasticity Stiff skin Entrapment neuropathy Microcephaly Optic atrophy Obesity Facial shape deformation


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