Hepatomegaly, and Small hand

Diseases related with Hepatomegaly and Small hand

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


Top matches:

High match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

High match HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1


Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

High match PACHYDERMOPERIOSTOSIS


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

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Other less relevant matches:

High 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

High match ALG13-CDG


ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

High match GELEOPHYSIC DYSPLASIA


Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

High match ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME


Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

High 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

High match HENNEKAM SYNDROME


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

High match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Respiratory insufficiency Scoliosis Generalized hypotonia Anteverted nares Intellectual disability Short palm Global developmental delay Edema EEG abnormality Delayed myelination Short foot Delayed skeletal maturation Microcephaly Short stature Muscular hypotonia Long philtrum Recurrent infections Decreased liver function Encephalopathy Smooth philtrum Narrow chest Wide nasal bridge Dilatation Abnormality of epiphysis morphology Severe short stature Joint stiffness Intellectual disability, severe Optic atrophy Apnea Malabsorption Flexion contracture Respiratory tract infection Cognitive impairment Recurrent respiratory infections Nystagmus Limb undergrowth Pectus excavatum Thickened skin Low-set ears Respiratory distress Feeding difficulties Abnormal facial shape Epicanthus Strabismus Failure to thrive

Rare Symptoms - Less than 30% cases


Abnormally ossified vertebrae Short neck Short nose Macrocephaly Metaphyseal cupping Flat occiput Abnormality of the metaphysis Short long bone Disproportionate short-limb short stature Rhizomelia Polyhydramnios Blue sclerae Micromelia Hypocalcemia Lymphopenia Skeletal dysplasia Wide mouth Joint hypermobility Gingival overgrowth Camptodactyly of finger Abnormality of the eye Elevated hepatic transaminase Hypertension Constipation Tremor Prominent forehead Hearing impairment Tracheal stenosis Cone-shaped epiphysis Coxa valga Joint contracture of the hand Camptodactyly Visual impairment Upper limb undergrowth Congestive heart failure Talipes equinovarus Type I transferrin isoform profile Cerebral visual impairment Decreased body weight Abnormal pyramidal sign Diarrhea Dysmetria Cerebral atrophy Decreased antibody level in blood Hepatosplenomegaly Postnatal microcephaly Hyperhidrosis Genu varum Anemia Osteoporosis Brachydactyly Coarse facial features Pneumonia Respiratory failure Poor eye contact Sleep apnea Gastrointestinal hemorrhage Global brain atrophy Round face Increased serum lactate Full cheeks Neoplasm of the skin Ptosis Motor delay Cardiomyopathy Pleural effusion Conical incisor Benign neoplasm of the central nervous system Cutaneous finger syndactyly Pericardial effusion Ectopic kidney Abnormality of dental morphology Mild postnatal growth retardation Thyroid lymphangiectasia Hypoalbuminemia Palpebral edema Pyloric stenosis Pericardial lymphangiectasia Pleural lymphangiectasia Reduced number of teeth Oligodontia Neoplasm Cutaneous syndactyly Increased number of teeth External ear malformation Primary hypothyroidism Lymphangioma Chylothorax Rectal prolapse Periorbital edema Abnormal oral mucosa morphology Protein-losing enteropathy Generalized edema Intestinal lymphangiectasia Erysipelas Hypoproteinemia Coronal craniosynostosis Sparse axillary hair Abnormal intestine morphology Arteriovenous malformation Pulmonary lymphangiectasia Hypoplastic iliac wing Severe hydrops fetalis Edema of the lower limbs Polysplenia Nonimmune hydrops fetalis Impaired temperature sensation Spina bifida occulta Bulbous nose Hypothyroidism Narrow mouth Glaucoma Hyperactivity Midface retrusion Syndactyly Malar flattening Intellectual disability, mild Abnormality of the dentition Atrial septal defect Umbilical hernia Ventricular septal defect Cryptorchidism Sensorineural hearing impairment Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Retrognathia Conductive hearing impairment Narrow palate Delayed eruption of teeth Horseshoe kidney Abnormality of the skeletal system Bilateral single transverse palmar creases Hydrops fetalis Lymphedema Pachygyria Dyspnea Vesicoureteral reflux Ascites Hirsutism Hydronephrosis Flat face Lymphadenopathy Abnormality of the foot Finger syndactyly Broad forehead Microtia Short philtrum Craniosynostosis Abnormality of the kidney Intellectual disability, moderate Myopia Carcinoma Immunodeficiency Generalized joint laxity Bronchiolitis Abnormality of chromosome stability Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Fair hair Abnormal diaphysis morphology Heart block Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Diaphyseal thickening Mucopolysacchariduria Metaphyseal dysplasia Non-Hodgkin lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Long fibula Normocytic anemia Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Macrocytic anemia High hypermetropia Thrombocytopenia Leukemia Abnormality of the ribs Convex nasal ridge Lymphoma Postural instability Hypopigmentation of the skin Neutropenia Joint hyperflexibility Hypotrichosis Arthrogryposis multiplex congenita Pectus carinatum Fine hair Abnormal cardiac septum morphology Sparse hair Hyperlordosis Low-set, posteriorly rotated ears Joint laxity Prolonged partial thromboplastin time Macrotia Brachycephaly Alopecia Lumbar hyperlordosis Depressed nasal ridge Abnormality of the hip bone Abnormality of pelvic girdle bone morphology Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Metaphyseal widening Portal hypertension Sacral dimple Abnormal form of the vertebral bodies Reduced tendon reflexes Abnormal palate morphology Accelerated skeletal maturation Sparse eyelashes Short ribs Sparse and thin eyebrow Abnormality of retinal pigmentation Bronchiectasis Aganglionic megacolon Bowing of the long bones Abnormal myelination Abnormality of vision Deep venous thrombosis Epileptic encephalopathy Adducted thumb Poor head control Microretrognathia Short chin Horizontal nystagmus Hypokinesia Clumsiness Hypsarrhythmia Abnormality of extrapyramidal motor function Abnormal bleeding Self-mutilation Sleep disturbance Progressive encephalopathy Developmental regression Increased CSF lactate Autism Fulminant hepatic failure Basal ganglia cysts Hydrocephalus Delayed speech and language development Infantile spasms Abnormality of brain morphology Arthritis Ventricular hypertrophy Bilateral talipes equinovarus Toe walking Vomiting Bicuspid aortic valve Aortic regurgitation Hypertonia Acidosis Aortic valve stenosis Small nail Cardiomegaly Abnormality of lateral ventricle Muscular hypotonia of the trunk Talipes Lactic acidosis Thin upper lip vermilion Metabolic acidosis Osteopenia Upslanted palpebral fissure Bradykinesia Cholestasis Arthralgia Posterior rib cupping Right ventricular hypertrophy Growth hormone excess Osteolysis Short metacarpal Tapered finger Cerebral palsy Acne Osteomyelitis Platyspondyly Aseptic necrosis Joint swelling Neoplasm of the lung Large fontanelles Abnormal hair pattern Abnormal cortical bone morphology Seborrheic dermatitis Peptic ulcer Abnormal hair quantity Eczematoid dermatitis Frontal bossing Abnormality of bone marrow cell morphology Cutis gyrata of scalp Broad thumb Abnormality of the fingernails Severe platyspondyly Flat acetabular roof Squared iliac bones Palmoplantar keratoderma Hypoplastic pubic bone Anterior rib cupping Vertebral hypoplasia Hypoplastic vertebral bodies Hypoplastic ischia Renal phosphate wasting Limitation of joint mobility Delayed epiphyseal ossification Wide anterior fontanel Bell-shaped thorax Protuberant abdomen Hypophosphatemia Metaphyseal irregularity Prominent supraorbital ridges Relative macrocephaly Bone pain Gynecomastia Recurrent pneumonia High pitched voice Dysostosis multiplex Thick vermilion border Decreased CSF albumin Patent ductus arteriosus Absent speech Cerebellar atrophy Myopathy Downslanted palpebral fissures Mitral regurgitation Micrognathia Ataxia Decreased CSF/serum albumin ratio Decreased CSF 5-hydroxyindolacetic acid Gait ataxia High myoinositol in brain by MRS Intrinsic hand muscle atrophy Perivascular spaces Corneal ulceration Decreased sensory nerve conduction velocity Elevated alpha-fetoprotein Alacrima Pain insensitivity Action tremor Elevated serum creatine phosphokinase Retinopathy Restlessness Knee flexion contracture Ankle contracture Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Trigonocephaly Poor suck Clubbing of toes Hemangioma Venous thrombosis Truncal ataxia Prominent nasal bridge Telangiectasia Progressive neurologic deterioration Intention tremor Febrile seizures Nail dysplasia Dental malocclusion High, narrow palate Severe global developmental delay Muscular dystrophy Blepharitis Axonal loss Ovoid vertebral bodies Hypoplasia of the corpus callosum Hyporeflexia Dystonia High palate Ventriculomegaly Fever Peripheral neuropathy Pain Hyperreflexia Intrauterine growth retardation Short metacarpals with rounded proximal ends Myoclonus Irregular capital femoral epiphysis Tricuspid stenosis J-shaped sella turcica Tip-toe gait Wrist flexion contracture Hypoplasia of the capital femoral epiphysis Thickened helices Lack of skin elasticity Mitral stenosis Spasticity Difficulty walking Muscle fibrillation Gliosis Anhidrosis Oral-pharyngeal dysphagia Hyperkinesis Cone/cone-rod dystrophy Aspiration Hoarse voice Involuntary movements Choreoathetosis Apraxia Recurrent fractures Subglottic stenosis Single transverse palmar crease Polyneuropathy Paresthesia Epiphyseal dysplasia Abnormality of movement Abnormality of eye movement Corneal opacity Scarring Abnormality of the liver Pulmonary artery stenosis Pulmonary lymphoma



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