Flexion contracture, and Downturned corners of mouth

Diseases related with Flexion contracture and Downturned corners of mouth

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


Top matches:

Low match PERMANENT NEONATAL DIABETES MELLITUS


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

Low match TRANSIENT NEONATAL DIABETES MELLITUS


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

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP


Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

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Other less relevant matches:

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Low match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Low match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Low match CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY


Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY Is also known as bone fragility-contractures-arterial rupture-deafness syndrome|lh3 deficiency|connective tissue disorder due to lh3 deficiency|lysyl hydroxylase 3 deficiency

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY

Low match WARBURG MICRO SYNDROME 3; WARBM3


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

Low match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Downturned corners of mouth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Flexion contracture and Downturned corners of mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Generalized hypotonia Low-set ears Scoliosis Microcephaly Short nose Short stature Bilateral ptosis Growth delay Ptosis Epicanthus Micrognathia Anteverted nares Motor delay Brachycephaly Generalized myoclonic seizures Blepharophimosis Hyperglycemia Cryptorchidism Arthrogryposis multiplex congenita Proptosis Failure to thrive Hypoplasia of the corpus callosum Autoimmune antibody positivity Dehydration Wide nasal bridge Prominent metopic ridge Downslanted palpebral fissures Talipes equinovarus Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases


Hypsarrhythmia High, narrow palate Hypoplastic labia minora Long palpebral fissure Camptodactyly of finger Telecanthus Abnormality of the pinna Cataract Midface retrusion Pectus excavatum Short philtrum Flat face Osteopenia Postnatal growth retardation Clinodactyly of the 5th finger Talipes Macrotia Depressed nasal bridge Optic atrophy Muscle weakness Kyphoscoliosis High palate Feeding difficulties Edema Coma Abnormality of the upper urinary tract Ketonuria Renal tubular dysfunction Glycosuria Neurodevelopmental delay Apraxia Peripheral axonal neuropathy Peripheral neuropathy Generalized tonic-clonic seizures Retinopathy Weight loss Abnormal heart morphology Intellectual disability, severe Muscular hypotonia Ataxia Hypovolemia Pancreatic hypoplasia Contractures of the joints of the lower limbs Clitoral hypoplasia Elbow flexion contracture Strabismus Hypertelorism Elevated hemoglobin A1c Transient neonatal diabetes mellitus Ventriculomegaly Diabetes mellitus Congenital cataract Thenar muscle atrophy Nystagmus Polymicrogyria Microcornea Microphthalmia Spastic tetraplegia Cerebellar vermis hypoplasia Decreased testicular size Arterial rupture Hypogonadism Micropenis Intellectual disability, profound Decreased palmar creases Cerebral cortical atrophy Tetraplegia J-shaped sella turcica Pain Diaphragmatic eventration Myopia Polyuria Abnormality of the ear Abnormality of the immune system Ketoacidosis Aspiration pneumonia Mild global developmental delay Limb joint contracture Beta-cell dysfunction Thickened ears Clinodactyly of the 4th finger Sensorineural hearing impairment Postnatal microcephaly Malar flattening Hypoplasia of the capital femoral epiphysis Dilatation Scarring Platyspondyly Bruising susceptibility Nail dysplasia Bilateral sensorineural hearing impairment Coarse hair Hemiplegia Pathologic fracture Dilatation of the cerebral artery Shallow orbits Porencephalic cyst Hypertrichosis Wide nose Low anterior hairline Capillary hemangioma Blue sclerae Abnormal form of the vertebral bodies Long eyelashes Gingival overgrowth Hemivertebrae Coxa valga Coxa vara Sacral dimple Oligodontia Elbow dislocation Open bite Increased number of teeth Anodontia Specific learning disability Hypoplastic labia majora Bifid tongue Avascular necrosis of the capital femoral epiphysis Femoral hernia Fingernail dysplasia Epispadias Median cleft lip and palate Abnormality of the gingiva Curly eyelashes Ridged fingernail Abnormality of the penis Euryblepharon Naevus flammeus of the eyelid Hypoplasia of penis Hip dysplasia Narrow palate Hypospadias Scrotal hypoplasia Spastic diplegia Cortical dysplasia External genital hypoplasia Ankle clonus Labial hypoplasia Shallow anterior chamber Frontoparietal polymicrogyria Brachydactyly Macrocephaly Frontal bossing Short neck Inguinal hernia Hypodontia Alopecia Severe short stature Posteriorly rotated ears Prominent forehead Upslanted palpebral fissure Retrognathia Umbilical hernia Pectus carinatum Finger syndactyly Hip dislocation Micromelia Short palm Polydipsia Radial deviation of finger Fever Failure to thrive in infancy Hypoplasia of the pons Cerebellar hypoplasia Neonatal hypotonia Dyskinesia Full cheeks Underdeveloped nasal alae Decreased body weight Progressive microcephaly Poor head control Hypoplasia of the brainstem Thoracic scoliosis Progressive encephalopathy Pontocerebellar atrophy Cerebral atrophy Hypertension Gait disturbance Renal insufficiency Pes cavus Polyhydramnios Arthralgia Arthritis Proteinuria Corneal opacity Pulmonic stenosis Stage 5 chronic kidney disease Nephropathy Encephalopathy Cerebellar atrophy Triangular face Gastroesophageal reflux Microalbuminuria Neonatal insulin-dependent diabetes mellitus Reduced pancreatic beta cells Insulin resistance Steatorrhea Maternal diabetes Abnormality of the pancreatic islet cells Abnormal facial shape Delayed speech and language development Agenesis of corpus callosum Narrow mouth Camptodactyly Hyperreflexia Wide mouth Broad forehead Abnormality of the cerebral white matter Joint hypermobility Round face Language impairment Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Spasticity Visual impairment Hypoplasia of the maxilla Limitation of joint mobility Type I diabetes mellitus Gowers sign Conductive hearing impairment Proximal muscle weakness Facial palsy Abnormality of the foot Long face Generalized muscle weakness Narrow forehead Short palpebral fissure Open mouth Tented upper lip vermilion Congenital contracture Myopathic facies Areflexia Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Vomiting Clinodactyly Pneumonia Abnormality of the nervous system Small for gestational age Confusion Progressive neurologic deterioration Aspiration Hyporeflexia Kyphosis Hypotelorism Azotemia Interphalangeal joint contracture of finger Abnormality of epiphysis morphology EMG abnormality Osteolysis Cachexia Elevated alkaline phosphatase Rheumatoid arthritis Slender long bone Abnormality of the wrist Juvenile rheumatoid arthritis Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Hypertensive retinopathy Myopathy Ankle swelling Doll-like facies Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Wrist swelling Osteolysis involving tarsal bones Cleft palate Cognitive impairment Skeletal muscle atrophy Abnormality of the skeletal system Respiratory insufficiency Onychogryposis of fingernail



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Nevus, related diseases and genetic alterations Myopathy and Hyperreflexia, related diseases and genetic alterations Low-set ears and Dysarthria, related diseases and genetic alterations

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