Edema, and Small nail

Diseases related with Edema and Small nail

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


Top matches:

Low match ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A


CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

Low match NAIL-PATELLA SYNDROME


Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

Low match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

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Other less relevant matches:

Low 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

Low match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Low match PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6


Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Low match DIAPHANOSPONDYLODYSOSTOSIS


Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Low match FIBROCHONDROGENESIS


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

Low match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Top 5 symptoms//phenotypes associated to Edema and Small nail

Symptoms // Phenotype % cases
Macrocephaly Uncommon - Between 30% and 50% cases
Hypoplastic toenails Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Intrauterine growth retardation Lymphedema Global developmental delay Oligohydramnios Severe short stature Malar flattening Short neck Skeletal dysplasia Brachydactyly Cleft palate Hearing impairment Abnormality of the fingernails Short stature Syndactyly Growth delay Anemia Low-set ears Epicanthus Depressed nasal bridge Hypoplastic fingernail

Rare Symptoms - Less than 30% cases


Generalized hypotonia Hypoplastic scapulae Fibular hypoplasia Accelerated skeletal maturation Short ribs Abnormality of the metaphysis Abnormal form of the vertebral bodies Micromelia Narrow chest Platyspondyly Dolichocephaly Short foot Wide anterior fontanel High myopia Clinodactyly of the 5th finger Agenesis of corpus callosum Strabismus Myopia Flexion contracture Alopecia Microphthalmia Deeply set eye Delayed speech and language development Intellectual disability Anterior rib cupping Postnatal growth retardation Hypocalcemia Bulbous nose Hypermetropia Unossified vertebral bodies Dumbbell-shaped long bone Congenital cataract Hepatomegaly Midface retrusion Cryptorchidism Short nose Bell-shaped thorax Umbilical hernia Respiratory insufficiency Hydrops fetalis Splenomegaly Ventricular septal defect Polymicrogyria Abnormality of the ribs Hypertension Protuberant abdomen Renal dysplasia Thoracic hypoplasia Depressed nasal ridge Renal cyst Flat face Pulmonary hypoplasia Large fontanelles Webbed neck Respiratory distress Inguinal hernia Short palm Small hand Talipes equinovarus Round face Limb undergrowth Omphalocele Rhizomelia Joint contracture of the hand Plagiocephaly Short long bone Patent foramen ovale Thin ribs Pectus carinatum Abnormality of the pinna Camptodactyly of finger Intralobar nephroblastomatosis Lumbosacral meningocele Hearing abnormality Abnormal liver lobulation Unossified sacrum Nephrogenic rest Nephroblastomatosis Absent or minimally ossified vertebral bodies Abnormal vertebral segmentation and fusion Narrow pelvis bone Increased nuchal translucency Enlarged thorax Cystic renal dysplasia Absent in utero ossification of vertebral bodies Disproportionate short-trunk short stature Downslanted palpebral fissures Hammertoe Missing ribs Myelomeningocele Frontal bossing Anteverted nares Long philtrum Multiple renal cysts Narrow mouth Proptosis Enlarged kidney Camptodactyly Tracheomalacia Vertebral segmentation defect Short thorax Absent in utero rib ossification Megalocornea Obesity Bifid tongue Dilatation Protruding ear Muscular hypotonia of the trunk Abnormality of the nervous system Posteriorly rotated ears Cerebellar hypoplasia Abnormal heart morphology Depressivity Cerebral atrophy Retinal detachment Hypertonia Hydrocephalus Hypoplasia of the corpus callosum Ventriculomegaly Optic atrophy Visual impairment Spasticity Microcephaly Short distal phalanx of finger Single transverse palmar crease Hair-pulling Corpus callosum atrophy Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Periventricular leukomalacia Aplasia cutis congenita Gliosis Short finger Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Low anterior hairline Blue sclerae Wide intermamillary distance Recurrent pyelonephritis Cerebellar cortical atrophy Broad ribs Pear-shaped vertebrae Immunodeficiency Wide nasal bridge Feeding difficulties Ptosis Widely patent sagittal suture Posterior vertebral hypoplasia Widely patent coronal suture Broad ischia Gastroesophageal reflux Posterior rib cupping Thin clavicles Narrow greater sacrosciatic notches Broad long bones Long clavicles Hypoplastic ischia Abnormal diaphysis morphology Metaphyseal cupping Hyperactivity Macrotia Bruxism Dental crowding Arachnoid cyst Palpebral edema Impaired pain sensation Large hands Recurrent skin infections Sacral dimple Pointed chin Hypohidrosis Long eyelashes Neonatal hypotonia Dental malocclusion Vesicoureteral reflux Full cheeks Sleep disturbance Thick eyebrow Nausea and vomiting Autistic behavior Hydronephrosis Muscular hypotonia Transient hypophosphatemia Abnormality of the placenta Hypoplastic ilia Advanced tarsal ossification Severe hydrops fetalis Advanced ossification of carpal bones Hypoplastic vertebral bodies Vertebral hypoplasia Lateral clavicle hook Diaphyseal thickening Ovoid vertebral bodies Snail-like ilia Flat acetabular roof Metaphyseal irregularity Disproportionate short-limb short stature Spontaneous abortion Polyhydramnios Thickening of the lateral border of the scapula Iliac horns Increased fibular diameter Neoplasm Aplasia/Hypoplasia of the patella Malabsorption Abnormal intestine morphology Hyperpigmentation of the skin Anorexia Nail dysplasia Tapered finger Abnormality of skin pigmentation Paresthesia Nail dystrophy Muscle weakness Autoimmunity Weight loss Abdominal pain Diarrhea Vomiting Fatigue Pain Aplastic/hypoplastic toenail Concave nail Hypokalemia Increased serum ferritin Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Mild postnatal growth retardation Erythroid hyperplasia Poikilocytosis Anemia of inadequate production Anisocytosis Reticulocytosis Renal insufficiency Macrocytic anemia Prolonged neonatal jaundice Cholelithiasis Abnormal vertebral morphology Hip dysplasia Hepatosplenomegaly Jaundice Macrocytic dyserythropoietic anemia Glaucoma Ridged nail Glomerulopathy Abnormality of the upper limb Abnormality of the lower limb Abnormal toenail morphology Abnormality of the elbow Patellar dislocation Exostoses Joint swelling Cubitus valgus Proteinuria Joint dislocation Vasculitis Osteoarthritis Nephrotic syndrome Nephropathy Hematuria Joint hyperflexibility Joint stiffness Cachexia Hypoalbuminemia Labial hypertrophy Congenital hypoparathyroidism Scoliosis Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Cortical thickening of long bone diaphyses Postnatal macrocephaly Thickened cortex of long bones Abnormality of the medullary cavity of the long bones Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Tetany Decreased skull ossification Abnormal circulating follicle-stimulating hormone level High palate Hypoparathyroidism Precocious puberty Neonatal insulin-dependent diabetes mellitus Small anterior fontanelle Abdominal wall defect Abnormality of earlobe Shallow orbits Prominent occiput Neonatal respiratory distress Gingival overgrowth Patent ductus arteriosus Abnormality of the face Cardiomegaly Dehydration Prominent nose Generalized myoclonic seizures Macroglossia Joint laxity Retrognathia Hyperphosphatemia Papilledema Clubbing Hematochezia Stomach cancer Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Furrowed tongue Clubbing of fingers Dystrophic toenail Hypomagnesemia Peripheral edema Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Sparse body hair Colon cancer Aplasia/Hypoplasia of the eyebrow Hamartomatous polyposis Patchy alopecia Proportionate short stature Infertility Basal ganglia calcification High hypermetropia Delayed cranial suture closure High pitched voice Increased bone mineral density Decreased testicular size Neutropenia Carious teeth Glossitis Small for gestational age Abnormality of the liver Prominent forehead Delayed skeletal maturation Abnormal facial shape Failure to thrive Decreased taste sensation Gastrointestinal carcinoma Retinal nonattachment



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