Hepatomegaly, and Micromelia

Diseases related with Hepatomegaly and Micromelia

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


Top matches:

High match OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16


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

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE


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

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

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Other less relevant matches:

High match GREENBERG DYSPLASIA


Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

High match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

High match C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C 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

Medium match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Medium match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


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}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Medium match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Micromelia

Symptoms // Phenotype % cases
Limb undergrowth Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Severe short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Epicanthus Anteverted nares Splenomegaly Short neck Short nose Skeletal dysplasia Bowing of the long bones Failure to thrive Growth delay Short ribs Low-set ears Polydactyly Muscular hypotonia Pulmonary hypoplasia Disproportionate short-limb short stature Edema Postaxial polydactyly Strabismus Polyhydramnios Rhizomelia Intellectual disability Seizures Narrow chest Cleft palate Global developmental delay Cystic hygroma Thoracic hypoplasia Mesomelia Microcephaly Abnormally ossified vertebrae Flat acetabular roof Ascites Hydrops fetalis Postaxial hand polydactyly Craniosynostosis Generalized hypotonia Delayed skeletal maturation Respiratory insufficiency Metaphyseal cupping Macrocephaly Omphalocele Vertebral hypoplasia Redundant skin Flared metaphysis Syndactyly Constipation Blue sclerae Prominent forehead Abnormal facial shape Scoliosis Low-set, posteriorly rotated ears Platyspondyly Clinodactyly Micrognathia Abnormality of epiphysis morphology Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Sparse hair Aplasia/hypoplasia of the extremities Abnormal bone ossification Diaphyseal thickening Lethal skeletal dysplasia Decreased skull ossification Postaxial foot polydactyly Aplasia/Hypoplasia of the abdominal wall musculature Pneumonia Hypertension Motor delay Abnormality of cholesterol metabolism Arthrogryposis multiplex congenita Fine hair Abnormal form of the vertebral bodies Hypocalcemia Intestinal malrotation Hydrocephalus Polymicrogyria Ambiguous genitalia High palate Hypospadias Anal stenosis Renal hypoplasia/aplasia Talipes equinovarus Clinodactyly of the 5th finger Hypopigmentation of the skin Renal hypoplasia Rigidity Upslanted palpebral fissure Abnormality of cardiovascular system morphology Myopia Depressed nasal ridge Patent ductus arteriosus Muscle stiffness Agenesis of corpus callosum Sacral dimple Posteriorly rotated ears Cleft lip Wide nasal bridge Toe syndactyly Multicystic kidney dysplasia Spasticity Oral cleft Nystagmus Gingival overgrowth Aplasia/Hypoplasia of the corpus callosum Talipes Flexion contracture Congestive heart failure Metaphyseal widening Respiratory failure Narrow vertebral interpedicular distance Short thorax Abnormality of the ribs Agenesis of permanent teeth Small for gestational age Metaphyseal irregularity Lumbar hyperlordosis Recurrent fractures Osteopenia Genu varum Frontal bossing Abnormality of the metaphysis Long philtrum Pectus excavatum Joint hypermobility Recurrent respiratory infections Vertebral compression fractures Short metacarpal Hyperlordosis Wide mouth Bell-shaped thorax Hepatosplenomegaly Hypoplastic vertebral bodies Delayed epiphyseal ossification Joint laxity Short palm Thin ribs Short long bone Protuberant abdomen Joint hyperflexibility Thin vermilion border Wormian bones Small hand Abdominal distention Relative macrocephaly Fair hair Hypoplastic pubic bone Upper limb undergrowth Overweight Thrombocytosis Heart block Generalized joint laxity Tracheal stenosis Abnormal diaphysis morphology Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Bronchiolitis Distal arthrogryposis Abnormality of chromosome stability Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Abnormality of the pancreas Aplastic anemia B-cell lymphoma Exocrine pancreatic insufficiency Abnormality of the hip bone Esophageal atresia Abnormal cardiac septum morphology Decreased antibody level in blood Gastrointestinal hemorrhage Lymphoma Postural instability Neutropenia Malabsorption Hypotrichosis Leukemia Pectus carinatum Carcinoma Bruising susceptibility EEG abnormality Macrotia Brachycephaly Spontaneous abortion Reduced number of teeth Alopecia Thrombocytopenia Recurrent infections Dilatation Convex nasal ridge Aganglionic megacolon Hypoplasia of the odontoid process Squamous cell carcinoma Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Hypoplastic anemia Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Cone-shaped epiphysis Bronchiectasis Portal hypertension Abnormality of pelvic girdle bone morphology Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Lymphopenia Sparse and thin eyebrow Abnormality of retinal pigmentation Neonatal short-limb short stature Biconvex vertebral bodies Abnormal T cell morphology Short distal phalanx of finger Bilateral postaxial polydactyly Thoracic dysplasia Hypoplastic scapulae Aplasia/Hypoplasia of the eyebrow Polycystic kidney dysplasia Microdontia Nail dysplasia Renal cyst Hepatic failure Fused teeth Dolichocephaly Renal insufficiency 2-4 toe syndactyly Hypoplastic nasal bridge Alveolar ridge overgrowth Macrogyria Ambiguous genitalia, female Total anomalous pulmonary venous return Abnormality of earlobe Short lingual frenulum Short uvula Gingival fibromatosis Slender long bone Overtubulated long bones Thin clavicles Ankyloglossia Cloverleaf skull Short hallux Asplenia Radial bowing Severe intrauterine growth retardation Aniridia Hypokinesia Microphthalmia Hyperostosis Growth abnormality Cardiac arrest Progressive microcephaly Decreased fetal movement Oligohydramnios Short philtrum Coarse facial features Micropenis Ambiguous genitalia, male Anomalous pulmonary venous return Abnormality of the distal phalanx of finger Susceptibility to chickenpox Retrognathia Narrow mouth Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Downslanted palpebral fissures Feeding difficulties Pulmonary lymphoma Flaring of lower rib cage Conductive hearing impairment Absent pubertal growth spurt Abnormality of humoral immunity Diarrhea Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Telecanthus Bifid uvula Generalized osteosclerosis Abnormality of neuronal migration Abnormality of the nose Abnormal cortical gyration Large earlobe Osteopetrosis Submucous cleft hard palate Absent septum pellucidum Aplasia/Hypoplasia of the skin Partial agenesis of the corpus callosum Bilateral talipes equinovarus Metatarsus adductus Renal agenesis Cupped ear Dermal atrophy Lissencephaly Microretrognathia Finger clinodactyly Increased bone mineral density Joint contracture of the hand Pachygyria Status epilepticus Immunodeficiency Abnormality of the anus Cardiomyopathy Short diaphyses Laryngeal calcification Tracheal calcification Abnormality of the calcaneus Punctate vertebral calcifications Abnormal foot bone ossification Hepatic calcification Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Horizontal sacrum Supernumerary vertebral ossification centers Abnormality of the scapula Abnormality of the orbital region Ectopic ossification Abnormal leukocyte morphology Severe hydrops fetalis Severe short-limb dwarfism Multiple prenatal fractures Absent toenail Abnormality of the vertebral spinous processes Abnormal ossification involving the femoral head and neck Pancreatic islet-cell hyperplasia Cerebellar hypoplasia Spondyloepimetaphyseal dysplasia Specific learning disability Abnormality of the abdominal wall Narrow greater sacrosciatic notches Anal atresia Abnormality of the pinna Short iliac bones Fibular overgrowth Central vertebral hypoplasia Anterior rib punctate calcifications Tremor Optic atrophy Abnormal epiphyseal ossification Ataxia Respiratory tract infection Joint stiffness Patchy variation in bone mineral density Sternal punctate calcifications Sclerosis of skull base Long clavicles Renal dysplasia Hypoplasia of the maxilla Bone marrow hypocellularity Lymphedema Wide anterior fontanel Short phalanx of finger Recurrent pneumonia Cardiomegaly Prominent supraorbital ridges Flat occiput Hypophosphatemia Sandal gap High forehead Renal phosphate wasting Midface retrusion Malar flattening Hypoplastic ischia Posterior rib cupping Severe platyspondyly Squared iliac bones Abnormality of the fingernails Pleural effusion Ectopic calcification Misalignment of teeth Short foot Extramedullary hematopoiesis Ulnar deviation of the hand Tapered finger 11 pairs of ribs Large forehead Hypoplastic fingernail Nonimmune hydrops fetalis Calvarial skull defect Large fontanelles Preeclampsia Barrel-shaped chest Abnormal lung lobation Epiphyseal stippling Abnormal joint morphology Broad palm Broad thumb Narrow nasal bridge Upper airway obstruction Abnormality of the face Abnormality of the skeletal system Failure to thrive in infancy Abnormality of immune system physiology Dislocated radial head Biparietal narrowing Multiple joint contractures Radial deviation of finger Clitoral hypertrophy Trigonocephaly Hand polydactyly Soft skin Abnormal hair pattern Cutis laxa Short chin Joint dislocation Horseshoe kidney Bilateral single transverse palmar creases Dentinogenesis imperfecta Abnormality of the genital system Intellectual disability, profound Ulnar deviation of finger Abnormality of the helix Tetralogy of Fallot Hypoplasia of the ear cartilage Visual impairment Anemia Cognitive impairment Neoplasm Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Renal cortical cysts Prolonged bleeding time Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Anterior rib cupping Accessory oral frenulum Broad alveolar ridges Medulloblastoma Congenital diaphragmatic hernia Limitation of joint mobility Thickened skin Rib fusion Aplasia/Hypoplasia of the macula Cerebral cortical hemiatrophy Pancreatic fibrosis Abnormality of the cerebellar vermis Lymphangioma Subcortical cerebral atrophy Oxycephaly Cystic renal dysplasia Polysplenia Hypoplastic colon Broad neck Enlarged kidney Generalized hyperpigmentation Macular dystrophy Premature graying of hair Hemivertebrae Short femur Hepatic fibrosis Hypoplasia of the small intestine Extrapulmonary sequestrum Hirsutism Proptosis Fractures of the long bones Smooth philtrum Beaded ribs Pain Hip dislocation Gait disturbance Arthralgia Neonatal hypotonia Abnormal heart morphology Disproportionate short stature Intellectual disability, severe Round face Ventricular septal defect Hoarse voice Coxa vara Hearing impairment Cryptorchidism Short femoral neck Hypoplastic spleen



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