Edema, and Small hand

Diseases related with Edema and Small hand

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

Top matches:

Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

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 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

Other less relevant matches:

Medium match 3MC SYNDROME 3; 3MC3

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

Medium match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short palm

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Muscular hypotonia Short foot Global developmental delay Hearing impairment Short nose Strabismus Failure to thrive Myopia Cataract Splenomegaly Conductive hearing impairment Intellectual disability, moderate Intrauterine growth retardation Respiratory tract infection Abnormal facial shape Pectus excavatum Microcephaly Nystagmus Ptosis Hepatomegaly Motor delay Clinodactyly of the 5th finger Intellectual disability, severe Ventricular septal defect Anteverted nares Epicanthus Sensorineural hearing impairment Low-set ears Malar flattening Cleft palate Camptodactyly Omphalocele Abnormality of the pinna Downslanted palpebral fissures Narrow mouth Midface retrusion Syndactyly Decreased fetal movement Obesity Synophrys Cognitive impairment Prominent forehead Ventriculomegaly High palate Delayed eruption of teeth Hypothyroidism Hyperactivity Dilatation Abnormality of the dentition Poor suck Smooth philtrum Respiratory distress Congestive heart failure Delayed puberty Radioulnar synostosis Highly arched eyebrow Sleep disturbance Microcornea Truncal obesity Gastroesophageal reflux Behavioral abnormality Clinodactyly Abnormality of the kidney Feeding difficulties Recurrent respiratory infections Brachydactyly Tapered finger Micromelia Delayed skeletal maturation Polyhydramnios Long philtrum Respiratory insufficiency Short neck Frontal bossing Narrow chest

Rare Symptoms - Less than 30% cases

Wide nasal bridge Talipes equinovarus Atrial septal defect Intellectual disability, mild Deep venous thrombosis Glaucoma Retrognathia Clumsiness Short philtrum Microtia Finger syndactyly Narrow forehead Vesicoureteral reflux Pachygyria Gingival overgrowth Growth hormone deficiency Failure to thrive in infancy Wide anterior fontanel Precocious puberty Recurrent infections Spontaneous abortion Scrotal hypoplasia Elbow dislocation Narrow palm Ataxia Hypertension Optic atrophy Myopathy EEG abnormality Weak cry Apnea Retinopathy Prominent nasal bridge Severe global developmental delay High, narrow palate Febrile seizures Narrow nasal bridge Arachnodactyly Venous thrombosis Bilateral single transverse palmar creases Pyloric stenosis Genu valgum Osteoporosis Hip dysplasia Primary amenorrhea Long eyelashes Low anterior hairline Overweight Impaired pain sensation Increased body weight Pain Delayed speech and language development Hyporeflexia Downturned corners of mouth Upslanted palpebral fissure Mandibular prognathia Abnormality of the cardiovascular system Pes planus Otitis media Esotropia Full cheeks Paralysis Single transverse palmar crease Arthritis Thick eyebrow Reduced number of teeth Peripheral neuropathy Oral cleft Abnormality of dental morphology Stroke Neonatal hypotonia Thin upper lip vermilion Diabetes mellitus Kyphosis Erysipelas Abnormality of epiphysis morphology Gastrointestinal hemorrhage Abnormality of the larynx Abnormality of cardiovascular system morphology Brachycephaly Cerebral cortical atrophy Autism Macrotia Anxiety Feeding difficulties in infancy Attention deficit hyperactivity disorder Neurological speech impairment Malabsorption Congenital diaphragmatic hernia Retinal detachment Severe short stature Hypoplastic ischia Short metacarpal High myopia Hypospadias Metaphyseal cupping Wide mouth Joint stiffness Cleft lip Respiratory failure Skeletal dysplasia Patent ductus arteriosus Abnormal heart morphology Micropenis Anterior rib cupping Umbilical hernia Camptodactyly of finger Hernia Platyspondyly Macrocephaly Flat occiput Abnormality of the metaphysis Talipes Short long bone Craniosynostosis Limb undergrowth Joint contracture of the hand Cutis gyrata of scalp Rhizomelia Postnatal growth retardation Hydrops fetalis Protuberant abdomen Bell-shaped thorax Posterior rib cupping Flat face Sandal gap Recurrent ear infections Thick corpus callosum Gingivitis Everted upper lip vermilion Velopharyngeal insufficiency Cavum septum pellucidum High-pitched cry Intellectual disability, progressive Visual loss Excessive daytime sleepiness Neoplasm Dolichocephaly Exotropia Leukemia Abnormality of the nervous system Hypoglycemia Photophobia Abnormality of retinal pigmentation Osteopenia Weight loss Progressive microcephaly Hypogonadism Vomiting Fever Sleep-wake inversion Recurrent aspiration pneumonia Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Chorioretinal dysplasia Abnormal tracheobronchial morphology Preauricular skin tag Abnormal renal morphology Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Morphological abnormality of the middle ear Broad face Deep palmar crease Constriction of peripheral visual field Drooling Abnormality of the outer ear Hypercholesterolemia Lissencephaly Hoarse voice Abnormal vertebral morphology Cubitus valgus Sinusitis Hypoplastic philtrum Stereotypy Hypoplasia of dental enamel Abnormality of the urinary system Cerebral hemorrhage Heterotopia Broad-based gait Hypertriglyceridemia Cat cry Disproportionate tall stature Abnormality of the hip bone Celiac disease Subcapsular cataract Macroglossia Thoracic scoliosis Sacral dimple Self-injurious behavior Prominent eyelashes Short metatarsal Posterior subcapsular cataract Hiatus hernia Leukopenia Macrodontia of permanent maxillary central incisor Tall stature Thick upper lip vermilion Recurrent skin infections Duodenal atresia Bruxism Laryngomalacia Short attention span Chronic constipation Impulsivity Self-mutilation Intracranial hemorrhage Drowsiness Protruding tongue Rheumatoid arthritis Broad palm Abnormality of the immune system Childhood-onset truncal obesity Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Pruritus Hypopigmentation of the skin Open mouth Hypoplasia of the fovea Tapetoretinal degeneration Vocal cord paralysis Rod-cone dystrophy Generalized hypopigmentation Thick hair Iris atrophy Reduced visual acuity Hypothermia Ocular albinism Microglossia Chromosome breakage Macrodontia Cor pulmonale Acrocyanosis Oligomenorrhea Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Kyphoscoliosis Bull's eye maculopathy Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Myeloid leukemia Nephropathy Recurrent aphthous stomatitis External genital hypoplasia Psychotic episodes Thrombocytopenia Microphthalmia Cerebellar hypoplasia Blindness Cardiomyopathy Misalignment of teeth Abnormality of the skeletal system Visual impairment Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Hypoplastic labia minora Aplasia/Hypoplasia of the earlobes Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Furrowed tongue Macular edema Bone spicule pigmentation of the retina Polyphagia Decreased muscle mass Hypermetropia Amenorrhea Hemeralopia Joint hypermobility Iris coloboma Cutaneous photosensitivity Retinal dystrophy Thick vermilion border Psychosis Neutropenia Type II diabetes mellitus Oligohydramnios Hypoplasia of the maxilla Narrow philtrum Prominent nose Chorioretinal dystrophy Specific learning disability Aciduria Convex nasal ridge Progressive visual loss Sepsis Pigmentary retinopathy Facial hypotonia Polymicrogyria Mitral valve prolapse Infertility Lumbar hyperlordosis Carious teeth Abnormality of skin pigmentation Laryngeal stenosis Adrenal insufficiency Nasal speech Skeletal muscle hypertrophy Peripheral visual field loss Glucose intolerance Inflammation of the large intestine Granulocytopenia Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Joint laxity Protruding ear Nyctalopia Infantile muscular hypotonia Retinal degeneration Sleep apnea Bicuspid aortic valve Narrow palpebral fissure Hypogonadotrophic hypogonadism Aortic valve stenosis Bradycardia Congenital neutropenia Small for gestational age Joint hyperflexibility Astigmatism Insulin resistance Hyperplasia of the maxilla Albinism Abnormal oral mucosa morphology Falls Posterior vertebral hypoplasia Bifid scrotum Epiphyseal dysplasia Preaxial polydactyly Abnormality of the genitourinary system Wormian bones Renal agenesis Cleft upper lip Blepharophimosis Muscular hypotonia of the trunk Telecanthus Depressivity Widely patent sagittal suture Widely patent coronal suture Facial cleft Pear-shaped vertebrae Broad ischia Dumbbell-shaped long bone Thin clavicles Narrow greater sacrosciatic notches Broad long bones Long clavicles Abnormal diaphysis morphology Broad ribs Bifid tongue Hypoplastic fingernail Hypoplastic scapulae Supernumerary nipple Shawl scrotum Megalocornea Tremor Dental malocclusion Delayed myelination Dysmetria Muscular dystrophy Abnormal pyramidal sign Abnormality of the eye Elevated hepatic transaminase Gait ataxia Elevated serum creatine phosphokinase Absent speech Cerebral atrophy Cerebellar atrophy Flexion contracture Irregular vertebral endplates Prominent coccyx Urethral valve Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Short 5th finger Bilateral cleft lip Broad foot Hearing abnormality Fibular hypoplasia Intention tremor Genu varum Eczematoid dermatitis Abnormal hair quantity Peptic ulcer Seborrheic dermatitis Abnormal cortical bone morphology Abnormal hair pattern Neoplasm of the lung Growth hormone excess Joint swelling Aseptic necrosis Osteomyelitis Acne Cerebral palsy Clubbing of toes Neoplasm of the skin Osteolysis Abnormality of the fingernails Gynecomastia Bone pain Thickened skin Limitation of joint mobility Palmoplantar keratoderma Coarse facial features Arthralgia Hyperhidrosis Anemia Abnormality of bone marrow cell morphology Impaired temperature sensation Thin ribs Abnormally ossified vertebrae Thoracic hypoplasia Hypoplastic toenails Patent foramen ovale Plagiocephaly Short ribs Abnormal form of the vertebral bodies Abnormality of the ribs Round face Pectus carinatum Proptosis Severe platyspondyly Squared iliac bones Hypoplastic pubic bone Blue sclerae Vertebral hypoplasia Hypoplastic vertebral bodies Renal phosphate wasting Flat acetabular roof Delayed epiphyseal ossification Hypophosphatemia Metaphyseal irregularity Prominent supraorbital ridges Relative macrocephaly Disproportionate short-limb short stature Recurrent pneumonia Large fontanelles Broad thumb Nail dysplasia Progressive neurologic deterioration Paresthesia Hip dislocation Proximal placement of thumb Atresia of the external auditory canal Widely spaced teeth Multicystic kidney dysplasia Generalized hirsutism Choanal atresia Low posterior hairline Hypoplasia of penis Intestinal malrotation Premature birth Thin vermilion border Toe syndactyly Low-set, posteriorly rotated ears Aplasia/Hypoplasia of the cerebellum Renal insufficiency Hypertonia Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Intestinal lymphangiectasia Obsessive-compulsive behavior Cutis marmorata Chylothorax Hypoplasia of the corpus callosum Dry skin Lethargy Hyperlordosis Aggressive behavior Deeply set eye High forehead Posteriorly rotated ears Pes cavus Constipation Inguinal hernia Areflexia Abnormality of metabolism/homeostasis Abnormally low-pitched voice Hypoplastic nipples Prenatal movement abnormality Phthisis bulbi Curly eyelashes Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Hypoplastic labia majora Severe postnatal growth retardation Blepharitis Oligodactyly Primary hypothyroidism Rectal prolapse Postnatal microcephaly Abnormal myelination Abnormality of the foot Broad forehead Hydronephrosis Hepatosplenomegaly Diarrhea Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Type I transferrin isoform profile Prolonged partial thromboplastin time Hirsutism Upper limb undergrowth Ankle contracture Lower limb hyperreflexia Increased variability in muscle fiber diameter Trigonocephaly Abnormality of vision Hemangioma Knee flexion contracture Truncal ataxia Cerebral visual impairment Decreased liver function Telangiectasia Lymphadenopathy Ascites Periorbital edema Increased number of teeth Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Arteriovenous malformation Hypoplastic iliac wing Edema of the lower limbs Polysplenia Coronal craniosynostosis External ear malformation Palpebral edema Cutaneous finger syndactyly Decreased antibody level in blood Pericardial effusion Ectopic kidney Pleural effusion Hypoalbuminemia Oligodontia Cutaneous syndactyly Abnormal intestine morphology Spina bifida occulta Narrow palate Horseshoe kidney Hypocalcemia Lymphopenia Lymphedema Slender toe


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Cardiomyopathy and Increased serum lactate, related diseases and genetic alterations Cardiomyopathy and Eosinophilia, related diseases and genetic alterations Spasticity and Bulbous nose, related diseases and genetic alterations Cognitive impairment and Pectus excavatum, related diseases and genetic alterations Scoliosis and Failure to thrive, related diseases and genetic alterations Scoliosis and Cognitive impairment, related diseases and genetic alterations