Edema, and Finger syndactyly

Diseases related with Edema and Finger syndactyly

In the following list you will find some of the most common rare diseases related to Edema and Finger syndactyly 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

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

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Other less relevant matches:

Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

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

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Top 5 symptoms//phenotypes associated to Edema and Finger syndactyly

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system Global developmental delay Micrognathia Wide nasal bridge Polyhydramnios Patent ductus arteriosus Hypertension Short neck Macrocephaly Abnormal facial shape Narrow chest Cleft palate Thick vermilion border Generalized hypotonia Anteverted nares Blepharophimosis Abnormality of the pinna Abnormality of the dentition Skeletal muscle atrophy Renal insufficiency Flexion contracture Narrow palpebral fissure Abnormality of the skin Short stature Frontal bossing Lymphedema Clinodactyly

Rare Symptoms - Less than 30% cases

Toe syndactyly Micromelia Pectus excavatum Cryptorchidism Brachydactyly Abnormality of the hair Agenesis of corpus callosum Wide mouth Thick lower lip vermilion Polymicrogyria Cutis laxa Strabismus Inguinal hernia Patent foramen ovale Short ribs Postaxial hand polydactyly Limb undergrowth Abnormal heart morphology Ectodermal dysplasia Ventricular septal defect Polydactyly Everted lower lip vermilion Cutaneous finger syndactyly Smooth philtrum Intrauterine growth retardation Joint laxity Scoliosis Growth delay Hydrops fetalis Skeletal dysplasia High forehead Deeply set eye Pain Abnormality of cardiovascular system morphology Abnormality of the metaphysis Nevus Microphthalmia Intellectual disability Vesicoureteral reflux High palate Cutaneous syndactyly Sparse hair Large for gestational age Hyperhidrosis Upslanted palpebral fissure Craniosynostosis Abnormality of epiphysis morphology Renal agenesis Myalgia Cataract Hemangioma Hernia Hoarse voice Hypotelorism Osteopenia Bifid uvula Multiple lipomas Telecanthus Camptodactyly Osteoporosis Ventriculomegaly Retrognathia Proptosis Ectropion Large hands Spina bifida Macrotia Sloping forehead Joint contracture of the hand Lissencephaly Pterygium Rickets Pachygyria Depressed nasal ridge Decreased fetal movement Ambiguous genitalia Cerebral calcification Cleft lip Dandy-Walker malformation Muscle cramps Pulmonary hypoplasia Cleft upper lip Ichthyosis Arthrogryposis multiplex congenita Muscular dystrophy Abnormal cardiac septum morphology Hypogonadism Cuboid-shaped vertebral bodies Cerebellar hypoplasia Bicuspid aortic valve Abnormal heart valve morphology Pericardial effusion Broad hallux Flared metaphysis Metaphyseal widening Elevated alkaline phosphatase Pyloric stenosis Prominent supraorbital ridges Accelerated skeletal maturation Thickened calvaria Coxa valga Generalized hirsutism Low anterior hairline Gingival overgrowth Long eyelashes Hypertrichosis Low posterior hairline Ventricular hypertrophy Thin ribs Short hallux Kyphosis Erlenmeyer flask deformity of the femurs Talipes equinovarus Microcephaly Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Bilateral coxa valga Congenital, generalized hypertrichosis Concentric hypertrophic cardiomyopathy Ovoid vertebral bodies Curly eyelashes Large sella turcica Deep plantar creases Generalized hypertrichosis Esodeviation Broad hallux phalanx Broad ribs Thick upper lip vermilion Radial deviation of finger Abnormality of nervous system morphology Rocker bottom foot Cortical dysplasia Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Nevus flammeus Syringomyelia Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Abnormality of digit Cutis marmorata Meningioma Nephroblastoma Redundant skin Reduced bone mineral density Arnold-Chiari malformation Ischemic stroke Shock Purpura Multicystic kidney dysplasia Telangiectasia Overgrowth Megalencephaly Varicose veins Retinal detachment Perisylvian polymicrogyria Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Asymmetric growth Large earlobe Right aortic arch Skin erosion Arterial stenosis Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Ascites Postaxial polydactyly Bilateral cryptorchidism Absent eyelashes Abnormal nasolacrimal system morphology Abnormality of the philtrum Calcaneovalgus deformity Hydranencephaly Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Abnormal eyelid morphology Broad foot Abnormality of the mouth Macrogyria Severe intrauterine growth retardation Abnormal eyelash morphology Submucous cleft hard palate Osteomalacia Transposition of the great arteries Absent septum pellucidum External genital hypoplasia Prominent occiput Opisthotonus Abnormality of neuronal migration Abnormality of the cerebellar vermis Bifid uterus Joint hypermobility Cognitive impairment Oral cleft Leukemia Broad forehead Stroke Postnatal growth retardation Abnormality of the nervous system Hypothyroidism Arrhythmia Hydrocephalus Downslanted palpebral fissures Muscular hypotonia Choroid plexus cyst Failure to thrive Neoplasm Seizures Yellow subcutaneous tissue covered by thin, scaly skin Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Small placenta Aplasia/Hypoplasia involving the skeletal musculature Cardiomegaly Hepatic fibrosis Short distal phalanx of finger Aplasia/Hypoplasia of the fibula Arthritis Arthralgia Visual impairment Hearing impairment Poorly ossified vertebrae Hypoplastic nasal septum Hypoplastic iliac body Severe short-limb dwarfism Abnormally ossified vertebrae Papule Abnormal bone ossification Abnormality of the radius Fibular aplasia Abnormality of the humerus Coronal cleft vertebrae Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of femur morphology Abnormality of tibia morphology Abnormality of the ulna Joint stiffness Palmoplantar keratoderma Absent radius Generalized limb muscle atrophy Mandibular prognathia Myopia Abnormal axial skeleton morphology Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Connective tissue nevi Osteopoikilosis Abnormal bone structure Abnormal aortic morphology Recurrent fractures Generalized osteosclerosis Abnormal cortical bone morphology Generalized hypopigmentation Atypical scarring of skin Scleroderma Hyperostosis Flat occiput Bone pain Subcutaneous nodule Aplasia/Hypoplasia of the lungs Abnormality of the metacarpal bones Protruding ear Molar tooth sign on MRI Depressivity Respiratory distress Fatigue Peripheral neuropathy Ptosis Muscle weakness Enlarged joints Multiple epiphyseal dysplasia Epiphyseal dysplasia Narrow mouth Joint dislocation Osteoarthritis Brain atrophy Genu valgum Hip dislocation Pectus carinatum Obesity Malar flattening Motor delay Hyporeflexia Rigidity Omphalocele Weak voice Underdeveloped nasal alae Growth hormone deficiency Severe short stature Alopecia Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Dysesthesia Paralysis Chronic pain Facial paralysis Axonal degeneration Scapular winging Narrow face Sensory impairment Postural instability Paresthesia Facial asymmetry Abnormality of the kidney Coloboma Thick eyebrow Hyperbilirubinemia Nephronophthisis Mesomelia Sparse eyebrow Preaxial polydactyly Chronic kidney disease Widely spaced teeth Plagiocephaly Sparse eyelashes Rhizomelia Polysplenia Left ventricular hypertrophy Cholestasis Narrow forehead Microdontia Full cheeks Renal cyst Stage 5 chronic kidney disease Dolichocephaly Proteinuria Cystic hygroma High anterior hairline Acidosis Intellectual disability, mild Platyspondyly Hypertrophic cardiomyopathy Anxiety Umbilical hernia Coarse facial features Prominent forehead Delayed skeletal maturation Recurrent infections Long philtrum Cardiomyopathy Biliary cirrhosis Delayed speech and language development Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Cholangitis Elevated hepatic transaminase Rod-cone dystrophy Microtia Abnormality of the nail Narrow nasal bridge Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the thorax Abnormality of the urinary system Abnormality of the fingernails Type I diabetes mellitus Hypohidrosis Hypoplastic nipples Recurrent urinary tract infections Fine hair Renal hypoplasia Nail dysplasia Delayed eruption of teeth Iris coloboma Dry skin Congenital cataract Nail dystrophy Aplasia cutis congenita Palpebral edema Midface retrusion Bilateral renal hypoplasia Splenomegaly Hepatomegaly Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Breast aplasia Short columella Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Blue nevus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Short metacarpal, related diseases and genetic alterations Neuroblastoma and Visual loss, related diseases and genetic alterations Cryptorchidism and Dolichocephaly, related diseases and genetic alterations Failure to thrive and Polyhydramnios, related diseases and genetic alterations Obesity and Short neck, related diseases and genetic alterations Peripheral neuropathy and Broad nasal tip, related diseases and genetic alterations Nystagmus and Hirsutism, related diseases and genetic alterations