Edema, and Clinodactyly

Diseases related with Edema and Clinodactyly

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

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Other less relevant matches:

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

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

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Low match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Top 5 symptoms//phenotypes associated to Edema and Clinodactyly

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Clinodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Ptosis Short neck Abnormal facial shape Anteverted nares Cleft palate Short stature Frontal bossing Cystic hygroma Intellectual disability Brachydactyly Micropenis Malar flattening Scrotal hypoplasia Macrocephaly Motor delay Hearing impairment Abnormality of the pinna Plagiocephaly Dolichocephaly Flexion contracture Hydrops fetalis High palate Depressed nasal bridge Epicanthus Short nose Polyhydramnios

Rare Symptoms - Less than 30% cases

Clinodactyly of the 5th finger Joint laxity Camptodactyly Retrognathia Webbed neck Upslanted palpebral fissure Feeding difficulties Hypermetropia Muscle weakness Syndactyly Hypoplastic toenails Small hand Limb undergrowth Omphalocele Rhizomelia Short ribs Patent foramen ovale Downslanted palpebral fissures Preaxial polydactyly Wide nasal bridge Pneumonia Long philtrum Bell-shaped thorax Respiratory insufficiency Narrow chest Muscular hypotonia of the trunk Arthrogryposis multiplex congenita Midface retrusion Lymphedema Obesity Abnormal heart morphology Pectus excavatum Inguinal hernia Respiratory distress Agenesis of corpus callosum Pectus carinatum Patent ductus arteriosus Hernia Telecanthus Everted lower lip vermilion Craniosynostosis Full cheeks Epiphyseal dysplasia Neonatal hypotonia Blepharophimosis Scoliosis Umbilical hernia Talipes equinovarus Cryptorchidism Immunodeficiency Growth delay Cataract Strabismus Ectodermal dysplasia Renal cyst Abnormality of the skeletal system Abnormality of the dentition Hepatomegaly Conductive hearing impairment Depressivity Rod-cone dystrophy Splenomegaly Renal insufficiency Stage 5 chronic kidney disease Hypospadias Polydactyly Acidosis High forehead Elevated hepatic transaminase Congestive heart failure Sparse hair Ventricular septal defect Smooth philtrum Cognitive impairment Proteinuria Highly arched eyebrow Hypertension Abnormality of the kidney Oral cleft Renal agenesis Cleft upper lip Talipes Congenital diaphragmatic hernia Wormian bones Spontaneous abortion Abnormality of the genitourinary system Radioulnar synostosis Elbow dislocation Postnatal growth retardation Bifid scrotum Supernumerary nipple Facial cleft Prominent coccyx Shawl scrotum Irregular vertebral endplates Broad foot Bilateral cleft lip Cleft lip Short 5th finger Diastasis recti Bilateral cleft lip and palate Bilateral conductive hearing impairment Skin dimples Intellectual disability, moderate Epicanthus inversus Caudal appendage Urethral valve Penoscrotal hypospadias Cloverleaf skull Microdontia Mask-like facies Severe postnatal growth retardation Distal arthrogryposis Difficulty running Centrally nucleated skeletal muscle fibers Myopathic facies Increased variability in muscle fiber diameter Bilateral cryptorchidism Congenital muscular dystrophy Fetal akinesia sequence Akinesia Pterygium Tented upper lip vermilion External ophthalmoplegia Narrow face Bradycardia Decreased fetal movement Cyanosis Facial diplegia Nemaline bodies Generalized muscle weakness Minicore myopathy Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Type 1 muscle fiber atrophy Functional respiratory abnormality Shoulder girdle muscle weakness Generalized limb muscle atrophy Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Exercise-induced myalgia Type 1 muscle fiber predominance Aciduria Single transverse palmar crease Postaxial hand polydactyly Chronic kidney disease Cholangitis Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Nephronophthisis Mesomelia Sparse eyebrow Widely spaced teeth Hair-pulling Cutis laxa Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Hepatic fibrosis Left ventricular hypertrophy Cholestasis Narrow forehead Broad philtrum Bile duct proliferation Pulmonary hypoplasia Respiratory failure Ophthalmoplegia Muscular dystrophy Prominent nasal bridge Respiratory tract infection Feeding difficulties in infancy Facial palsy Proximal muscle weakness Kyphoscoliosis Recurrent respiratory infections Portal fibrosis Areflexia Kyphosis Myopathy Skeletal muscle atrophy Muscular hypotonia Fused teeth Metopic synostosis Horizontal ribs Recurrent pyelonephritis Broad ischia Cerebellar cortical atrophy Cerebellar dysplasia Vomiting Intrauterine growth retardation Peripheral neuropathy Failure to thrive Kinked brainstem Hand clenching Overlapping fingers Abnormality of the nervous system Pericardial effusion Overlapping toe Hypoplasia of the brainstem Pleural effusion Adducted thumb Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Diabetes mellitus Small for gestational age Oculomotor apraxia Polydipsia Ketoacidosis Prominent metopic ridge Abnormality of the immune system Abnormality of the ear Polyuria Hyperglycemia Radial deviation of finger Bilateral ptosis Confusion Failure to thrive in infancy Type I diabetes mellitus Aspiration Progressive neurologic deterioration Hypsarrhythmia Dehydration Downturned corners of mouth Lissencephaly Heterotopia Mild global developmental delay Vasculitis Finger syndactyly Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Combined immunodeficiency Subcutaneous nodule Genu valgum Inflammatory abnormality of the skin Bifid uvula Autoimmunity Scarring Pes planus Thrombocytopenia Fever Hip dislocation Brain atrophy Apraxia Behavioral abnormality Hypotelorism Dandy-Walker malformation Abnormality of the foot Abnormality of eye movement Posteriorly rotated ears Cerebellar hypoplasia Absent speech Hydrocephalus Osteoarthritis Ventriculomegaly Microcephaly Enlarged joints Multiple epiphyseal dysplasia Molar tooth sign on MRI Joint dislocation Abnormality of epiphysis morphology Aspiration pneumonia Autoimmune antibody positivity Bruxism Posterior vertebral hypoplasia Deeply set eye Macrotia Gastroesophageal reflux Hyperactivity Delayed speech and language development Widely patent sagittal suture Widely patent coronal suture Autistic behavior Pear-shaped vertebrae Dumbbell-shaped long bone Posterior rib cupping Thin clavicles Narrow greater sacrosciatic notches Broad long bones Anterior rib cupping Hydronephrosis Nausea and vomiting Hypoplastic ischia Pointed chin Arachnoid cyst Palpebral edema Impaired pain sensation Large hands Recurrent skin infections Sacral dimple Accelerated skeletal maturation Hypohidrosis Bulbous nose Dental crowding Long eyelashes Renal dysplasia Dental malocclusion Vesicoureteral reflux Sleep disturbance Thick eyebrow Long clavicles Abnormal diaphysis morphology Limb joint contracture Narrow mouth Flat face Micromelia Platyspondyly Camptodactyly of finger Skeletal dysplasia Proptosis Severe short stature Short foot Myopia Clinodactyly of the 4th finger Elevated hemoglobin A1c Thickened ears Transient neonatal diabetes mellitus Beta-cell dysfunction Pancreatic hypoplasia Short palm Round face Metaphyseal cupping Fibular hypoplasia Broad ribs Bifid tongue Hypoplastic fingernail Hypoplastic scapulae Hearing abnormality Megalocornea Protuberant abdomen Thin ribs High myopia Thoracic hypoplasia Short long bone Joint contracture of the hand Wide anterior fontanel Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormality of the ribs Type 1 and type 2 muscle fiber minicore regions


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