Edema, and Tapered finger

Diseases related with Edema and Tapered finger

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


Top matches:

Medium match ACROMEGALOID FACIAL APPEARANCE SYNDROME


Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Medium match PEHO-LIKE SYNDROME


PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Medium match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

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Other less relevant matches:

Medium match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Medium match PEHO SYNDROME


PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Medium match OPSISMODYSPLASIA


Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Medium match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Medium match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Medium match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Low match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Top 5 symptoms//phenotypes associated to Edema and Tapered finger

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Short nose Uncommon - Between 30% and 50% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Full cheeks Absent speech Cerebellar atrophy Ventriculomegaly Microcephaly Epicanthus Intellectual disability Sloping forehead Brain atrophy Long philtrum Widely spaced teeth Recurrent respiratory infections Cerebellar hypoplasia Splenomegaly Retrognathia Narrow forehead Abnormal facial shape Fatigue Respiratory insufficiency Fever Open mouth Progressive microcephaly Hearing impairment Hepatomegaly Neoplasm Synophrys Mandibular prognathia Flexion contracture Palpebral edema Cerebral cortical atrophy Wide nasal bridge Optic atrophy Highly arched eyebrow Anteverted nares Lymphedema Macrotia Frontal bossing Pain Intellectual disability, severe Cryptorchidism

Rare Symptoms - Less than 30% cases


Wide nose Generalized hyperpigmentation Kyphosis Protein-losing enteropathy Tented upper lip vermilion Pulmonic stenosis Pectus excavatum Depressivity Hyperhidrosis Limitation of joint mobility Dehydration Anxiety Short neck Polyhydramnios Visual loss Peripheral edema Neurological speech impairment Short palm High palate Cleft palate Feeding difficulties Webbed neck Migraine Malar flattening Falls Midface retrusion Wide mouth Sparse eyebrow Overlapping toe Respiratory failure Hypoalbuminemia Thrombocytopenia Recurrent infections Immunodeficiency Syndactyly Sensorineural hearing impairment Feeding difficulties in infancy Short philtrum Posteriorly rotated ears Abnormal cardiac septum morphology Strabismus Camptodactyly Downslanted palpebral fissures Kyphoscoliosis Myoclonus Encephalopathy Hypertonia Hyperreflexia Motor delay Spasticity Low-set ears Ptosis Large hands Intellectual disability, profound Nystagmus Gingival overgrowth Thickened skin Thick lower lip vermilion Macroglossia Everted lower lip vermilion Deep plantar creases Bulbous nose Blepharophimosis Coarse facial features Scoliosis Micrognathia Hypsarrhythmia Polymicrogyria Short stature Diarrhea External ear malformation Hydronephrosis Abnormality of the fingernails Depressed nasal bridge Weight loss Pachygyria Abnormal intestine morphology Patent ductus arteriosus Clinodactyly Vomiting Drowsiness Macrocephaly Anemia Hypospadias Muscular hypotonia Infantile encephalopathy Behavioral abnormality Severe muscular hypotonia Paresthesia Attention deficit hyperactivity disorder Irritability Apnea Carious teeth Interphalangeal joint contracture of finger Generalized-onset seizure Dolichocephaly Pes planus Cyanosis Underdeveloped nasal alae Round face Sudden cardiac death Facial palsy Ascites Dyspnea Downturned corners of mouth Bilateral sensorineural hearing impairment Dandy-Walker malformation Renal agenesis Dental malocclusion Nevus Hypohidrosis Retinal detachment Smooth philtrum Proximal placement of thumb Thin upper lip vermilion Reduced visual acuity Upslanted palpebral fissure Prominent forehead Inguinal hernia Hernia Abnormality of the skeletal system Ataxia Exotropia Unilateral renal agenesis Narrow mouth Intestinal lymphangiectasia Hyporeflexia Renal insufficiency Respiratory distress Talipes equinovarus Delayed speech and language development Cognitive impairment Eversion of lateral third of lower eyelids Flared nostrils Macrothrombocytopenia Pericardial effusion Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Mild microcephaly Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Abnormality of the sternum Recurrent urinary tract infections Constipation Elbow flexion contracture Aplasia/Hypoplasia of the corpus callosum Hallux valgus Rocker bottom foot Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Pyloric stenosis Poor suck Abnormality of the genitourinary system Drooling Cutaneous syndactyly Supernumerary nipple Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Abnormality of the genital system Recurrent otitis media Sparse scalp hair Fine hair Coarctation of aorta Tetralogy of Fallot Ectopic kidney Submucous cleft hard palate Focal-onset seizure Prominent nasal tip Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Subglottic stenosis Broad eyebrow Esodeviation Pulmonary artery stenosis Broad columella Broad hallux phalanx Large earlobe Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology Febrile seizures Otitis media Adducted thumb Central apnea Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Velopharyngeal insufficiency Large face Trismus Growth delay Narrow nose Malignant hyperthermia Episodic fever Acute kidney injury Limited elbow extension Opisthotonus Disproportionate tall stature Keratitis Radial deviation of finger Nasal speech Cold-induced sweating Failure to thrive Esotropia Postnatal growth retardation Vesicoureteral reflux Abdominal distention Delayed eruption of teeth Iris coloboma Cleft upper lip Abnormality of the cerebral white matter Finger syndactyly Pectus carinatum Camptodactyly of finger Coloboma Abnormality of the kidney Ventricular septal defect Telecanthus Deeply set eye High forehead Agenesis of corpus callosum Abnormality of reproductive system physiology Abnormal heart morphology Abnormality of cardiovascular system morphology Dilatation Microphthalmia Atrial septal defect Cortical diaphyseal thickening of the upper limbs Flat acetabular roof Broad jaw Hematuria Leukocytosis Chronic otitis media Myelodysplasia Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Pancytopenia Hypotelorism Hemolytic anemia Cellulitis Bruising susceptibility Cirrhosis Lymphadenopathy Vertigo Nausea and vomiting Leukemia Scarring Pallor Decreased taste sensation Prolonged bleeding time Myeloid leukemia Glossitis Blindness Abnormal palate morphology Neuronal loss in central nervous system Abnormality of movement Abnormality of eye movement Arthrogryposis multiplex congenita Abnormality of the eye EEG abnormality Cerebral atrophy Hydrocephalus Acute myeloid leukemia Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Gastrointestinal carcinoma Patchy alopecia Infantile spasms Status epilepticus Malabsorption Nail dystrophy Autoimmunity Abdominal pain Alopecia Cataract Muscle weakness Central hypotonia Neonatal hypotonia Nail dysplasia Abnormal lip morphology Thick nasal alae Abnormality of the tongue Craniofacial hyperostosis Long nose Abnormality of the metacarpal bones Thick eyebrow Joint hyperflexibility Intellectual disability, mild Abnormality of skin pigmentation Anorexia Hamartomatous polyposis Abnormality of the vasculature Stomach cancer Intestinal polyposis Dystrophic fingernails Furrowed tongue Clubbing of fingers Dystrophic toenail Hematochezia Hypomagnesemia Xerostomia Hyperpigmentation of the skin Thromboembolism Sparse body hair Colon cancer Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Hypokalemia Cachexia Hypocalcemia Infantile muscular hypotonia Biparietal narrowing Macrodactyly Arthralgia Generalized hirsutism Hoarse voice Tall stature Mitral regurgitation Osteoarthritis Long face Broad forehead Hypertrophic cardiomyopathy Diabetes mellitus Cerebral palsy Abnormality of the dentition Hypertension Posterior rib cupping Severe platyspondyly Squared iliac bones Abnormally ossified vertebrae Hypoplastic pubic bone Anterior rib cupping Vertebral hypoplasia Acanthosis nigricans Sleep apnea Hypoplastic ischia Deep palmar crease Dysmenorrhea Pituitary prolactin cell adenoma Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Neoplasm of the endocrine system Growth abnormality Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Joint swelling Spinal canal stenosis Impotence Acne Hypoplastic vertebral bodies Renal phosphate wasting Atrophy/Degeneration affecting the brainstem Undetectable visual evoked potentials Narrow chest Platyspondyly Joint stiffness Respiratory tract infection Skeletal dysplasia Severe short stature Delayed skeletal maturation Brachydactyly Peripheral dysmyelination Small hand Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Porencephalic cyst Periventricular leukomalacia Developmental stagnation Edema of the lower limbs Progressive encephalopathy Epileptic spasms Micromelia Short foot Metaphyseal cupping Short long bone Delayed epiphyseal ossification Bell-shaped thorax Protuberant abdomen Hypophosphatemia Flat occiput Metaphyseal irregularity Prominent supraorbital ridges Relative macrocephaly Disproportionate short-limb short stature Short metacarpal Recurrent pneumonia Wide anterior fontanel Rhizomelia Abnormality of epiphysis morphology Large fontanelles Broad thumb Abnormality of the metaphysis Blue sclerae Limb undergrowth Aplasia/Hypoplasia of the cerebral white matter



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