Hepatomegaly, and Skeletal dysplasia

Diseases related with Hepatomegaly and Skeletal dysplasia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

Other less relevant matches:

Medium match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Medium match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Medium match SCHEIE SYNDROME

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008).McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., {183900}) and multiple epiphyseal dysplasia (see, e.g., {132400}).Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity.

MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A Is also known as galactosamine-6-sulfatase deficiency|mps iva|galns deficiency|morquio a disease|morquio syndrome a

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hepatomegaly
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A

Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).See mucopolysaccharidosis type IVA (OMIM ), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (OMIM ) on chromosome 16q24.There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B Is also known as morquio syndrome b|mps ivb

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Apnea Hyperlordosis Depressed nasal bridge Brachydactyly Metaphyseal widening Platyspondyly Wormian bones Carious teeth Osteoporosis Pain Kyphosis Joint laxity Severe short stature Sleep apnea Wide mouth Abnormal facial shape Macrocephaly Limb undergrowth Anemia Genu valgum Corneal opacity Coarse facial features Mandibular prognathia

Rare Symptoms - Less than 30% cases

Cervical myelopathy Ulnar deviation of the wrist Fever Edema Cervical subluxation Flaring of rib cage Papule Prominent sternum Skin rash Constricted iliac wings Pointed proximal second through fifth metacarpals Keratan sulfate excretion in urine Grayish enamel Lymphadenopathy Opacification of the corneal stroma Disproportionate short-trunk short stature Spondylolisthesis Hypodontia Narrow chest Abnormality of the skeletal system Aortic valve stenosis Proptosis Frontal bossing Dysostosis multiplex Visual impairment Sensorineural hearing impairment Cervical cord compression Short toe Abnormality of the dentition Inguinal hernia Coxa valga Widely spaced teeth Leukocytosis Recurrent upper respiratory tract infections Spondyloepiphyseal dysplasia Restrictive ventilatory defect Hypoplasia of the odontoid process Ovoid vertebral bodies Abnormal vertebral morphology Epiphyseal deformities of tubular bones Small nail Recurrent fractures Vertebral compression fractures Short neck Arthralgia Pneumonia Agenesis of permanent teeth Abnormality of epiphysis morphology Short ribs Thick vermilion border Blue sclerae Joint stiffness Micromelia Thickened skin Full cheeks Epiphyseal dysplasia Hoarse voice Round face Retinal degeneration Broad face Mitral stenosis Wide nose Everted lower lip vermilion Syncope Persistence of primary teeth Limitation of joint mobility Rhinitis Delayed eruption of permanent teeth Situs inversus totalis Spastic paraparesis Aortic regurgitation Spinal cord compression Obstructive sleep apnea Stridor Cerebral palsy Snoring Delayed eruption of primary teeth Median cleft lip Persistent open anterior fontanelle Horseshoe kidney Cutaneous syndactyly Cone-shaped epiphysis Osteolytic defects of the distal phalanges of the hand Mesomelia Atrioventricular canal defect Metaphyseal dysplasia Hamartoma Increased number of teeth Spinal canal stenosis Short clavicles Thoracic dysplasia Absent frontal sinuses Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Bilateral postaxial polydactyly Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Spondylolysis Pes cavus Glaucoma Constrictive median neuropathy Abnormal pattern of respiration Hypoplasia of the maxilla Abnormality of peripheral nerve conduction Hip pain Increased bone mineral density Bone pain Coarctation of aorta Abnormality of the face Abnormality of the skin Growth hormone deficiency Chondroitin sulfate excretion in urine Large elbow Abnormality of the nervous system Prominent nose Thoracolumbar kyphosis Decreased beta-galactosidase activity Narrow palate Intimal thickening in the coronary arteries Micrognathia Cognitive impairment Hydrocephalus Malar flattening Midface retrusion Prominent forehead Brachycephaly High forehead Craniosynostosis Short distal phalanx of finger Delayed eruption of teeth Abnormality of the nail Abnormality of the fingernails Mucopolysacchariduria Abnormality of the vertebral column Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Low back pain Postural instability Small face Ridged nail Osteolytic defects of the phalanges of the hand Osteopetrosis Pectus carinatum Abnormality of the clavicle Ascites Prominent occiput Osteolysis Osteomyelitis Abnormality of dental morphology Abnormal heart valve morphology Abnormality of the thorax Beaking of vertebral bodies Back pain Increased susceptibility to fractures Multiple epiphyseal dysplasia Avascular necrosis of the capital femoral epiphysis Corneal crystals Atlantoaxial dislocation Abnormality of pelvic girdle bone morphology Tricuspid atresia Juvenile rheumatoid arthritis Postaxial hand polydactyly Fibular overgrowth Thoracic hypoplasia Short thorax Disproportionate short stature Bell-shaped thorax Delayed epiphyseal ossification Flat acetabular roof Short femur Upper airway obstruction Spondyloepimetaphyseal dysplasia Abnormality of the abdominal wall Vertebral hypoplasia Narrow greater sacrosciatic notches Narrow vertebral interpedicular distance Short iliac bones Central vertebral hypoplasia Flared metaphysis Pruritus Inflammatory abnormality of the skin Nephrotic syndrome Lymphoma Sepsis Dry skin Hypotrichosis Autoimmunity Abnormal epiphyseal ossification Hypothyroidism Alopecia Thrombocytopenia Immunodeficiency Diarrhea Failure to thrive Short femoral neck Metaphyseal irregularity Chronic diarrhea Mitral regurgitation Conductive hearing impairment Osteopenia Constipation Congestive heart failure Subglottic stenosis Pulmonary artery stenosis Small hand Joint hypermobility Bulbous nose Dyspnea Respiratory failure Long philtrum Anteverted nares Wide nasal bridge Small for gestational age Bruising susceptibility Genu varum Gait disturbance Coxa vara Lumbar hyperlordosis Abnormality of the ribs Abdominal distention Thin vermilion border Joint hyperflexibility Beaded ribs Spontaneous abortion Fractures of the long bones Dentinogenesis imperfecta Soft skin Thin ribs Prolonged bleeding time Reduced number of teeth Abnormality of the metaphysis Increased body weight Nail dysplasia Abnormal joint morphology Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Uveitis Amyloidosis Arthropathy Progressive sensorineural hearing impairment Abnormality of neutrophils Elevated erythrocyte sedimentation rate Urticaria Reduced bone mineral density Increased intracranial pressure Purpura Joint dislocation Inflammatory abnormality of the eye Pseudopapilledema Meningitis Patent ductus arteriosus Postaxial polydactyly Cleft upper lip Oral cleft Cleft lip Polyhydramnios Polydactyly Syndactyly Retrobulbar optic neuritis Respiratory distress Respiratory insufficiency Downslanted palpebral fissures Epicanthus Low-set ears Abnormal granulocyte morphology Vasculitis Overgrowth Recurrent bacterial infections Thyroiditis Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Hashimoto thyroiditis Aplasia/Hypoplasia of the eyebrow B lymphocytopenia Combined immunodeficiency Erythroderma Scaling skin Eosinophilia Disproportionate short-limb short stature Shock Metaphyseal chondrodysplasia Recurrent fungal infections Premature birth Fatigue Migraine Nausea and vomiting Arthritis Myalgia EEG abnormality Blindness Growth delay Protracted diarrhea Global developmental delay Intellectual disability Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Abnormal pelvis bone ossification


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