Hepatomegaly, and Hypoplasia of the maxilla

Diseases related with Hepatomegaly and Hypoplasia of the maxilla

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

Top matches:

High 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

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

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Other less relevant matches:

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Alopecia Edema Hearing impairment Hypertelorism Brachydactyly Failure to thrive Seizures Micrognathia Intellectual disability Growth hormone deficiency Malabsorption Diabetes mellitus Thrombocytopenia Intrauterine growth retardation Abnormality of the fingernails Ptosis Wide nasal bridge Clinodactyly Anteverted nares Hypodontia Low-set ears Ventricular septal defect Severe short stature Abnormal heart morphology Strabismus Recurrent fractures Frontal bossing Proptosis Abnormality of the dentition High forehead Generalized hypotonia Apnea Scoliosis Macrocephaly

Rare Symptoms - Less than 30% cases

Long philtrum Broad palm Hyperreflexia Hernia Syndactyly Short nose Intellectual disability, mild Behavioral abnormality Short neck Cholestasis Atrial septal defect Delayed skeletal maturation Abnormal cardiac septum morphology Micropenis Hypothyroidism Calvarial skull defect Hypertension Aspiration Flexion contracture Hypotrichosis Cryptorchidism Pain Postnatal growth retardation Dyspnea Hyperactivity Inguinal hernia Lymphedema Hyperpigmentation of the skin Developmental regression Hepatic failure Abnormal eyebrow morphology Cyanosis Abnormality of the cardiovascular system Mitral valve prolapse Hyperkeratosis Exocrine pancreatic insufficiency Hyperbilirubinemia Absent lacrimal punctum Microcephaly Protuberant abdomen Sensorineural hearing impairment Communicating hydrocephalus Hyperplasia of the maxilla Radial deviation of finger Increased intracranial pressure Single transverse palmar crease Polymicrogyria Cirrhosis Cleft upper lip Delayed puberty Camptodactyly Joint laxity Pes planus Umbilical hernia Bone marrow hypocellularity Cognitive impairment Cardiomegaly Osteoporosis Ridged nail Blue sclerae Carious teeth Snoring Abnormality of the nail Narrow chest Agenesis of permanent teeth Abnormal pelvis bone ossification Delayed eruption of teeth Depressed nasal bridge Feeding difficulties Osteolysis Skeletal dysplasia Abnormality of the face Prominent forehead Abnormality of the skeletal system Intestinal malrotation Hydrocephalus Kyphosis Malar flattening Sleep apnea Midface retrusion Ascites Respiratory failure Ophthalmoplegia Limitation of joint mobility Coarse facial features Esotropia Macroglossia Tachycardia Optic atrophy Hypoplasia of the primary teeth Joint stiffness Mandibular prognathia Midline skin dimples over anterior/posterior fontanelles Rigidity Aggressive behavior Kyphoscoliosis Abnormality of cardiovascular system physiology Cerebral atrophy Dicarboxylic aciduria Delayed closure of the anterior fontanelle Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Distal arthrogryposis Protruding tongue Pericardial effusion Heart murmur Recurrent upper respiratory tract infections Respiratory distress Neonatal hyperbilirubinemia Tachypnea Progressive hearing impairment Thickened skin Abnormality of the nasal bridge Mitral regurgitation Urethrovaginal fistula Pulmonary arterial hypertension Spasticity Dysphagia Recurrent otitis media Colonic diverticula Abnormality of the female genitalia Oculomotor apraxia Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Widely spaced teeth Severe muscular hypotonia Pointed chin Hypocalcemia Situs inversus totalis Cafe-au-lait spot Trismus Dextrocardia Bulbar signs Sparse scalp hair Hypoplasia of penis Microdontia Convex nasal ridge Underdeveloped nasal alae Generalized muscle weakness Abdominal distention Downturned corners of mouth Anal atresia Dilated cardiomyopathy Congenital sensorineural hearing impairment Hydroureter Malrotation of small bowel Lacrimation abnormality Anasarca Septate vagina Increased VLDL cholesterol concentration Thoracolumbar kyphosis Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Abnormality of the pancreas Steatorrhea Rectovaginal fistula Hypoproteinemia Progressive neurologic deterioration Abnormal hair pattern Fair hair Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Increased mean corpuscular volume J-shaped sella turcica Inspiratory stridor Hypertriglyceridemia Plagiocephaly Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Myelofibrosis Gynecomastia Gingival overgrowth Telangiectasia Bronchiectasis Primary amenorrhea Hypertrichosis Epistaxis Lipodystrophy Epidermal acanthosis Bilateral sensorineural hearing impairment Overgrowth Amenorrhea Decreased testicular size Wide intermamillary distance Full cheeks Polyneuropathy Flat face Ichthyosis Lymphadenopathy Azoospermia Psoriasiform dermatitis Pectus carinatum Enlarged kidney Chronic rhinitis Broad finger Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Varicose veins Aspiration pneumonia Corneal arcus Severe sensorineural hearing impairment Stridor Episodic fever Polycythemia Scleroderma Lipoatrophy Generalized lymphadenopathy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Abnormality of the foot Retinopathy Hypochromic anemia Abnormality of mucopolysaccharide metabolism Muscular hypotonia of the trunk Abnormality of the eye Dolichocephaly Triangular face Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Aciduria Heterotopia Dermatan sulfate excretion in urine Large fontanelles Short digit Abnormality of the nervous system Flat occiput Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Abnormality of neuronal migration Central hypotonia Morphological abnormality of the central nervous system Obstructive lung disease Pancreatic hypoplasia Abnormality of the optic disc Posterior embryotoxon Localized skin lesion Jaundice Abnormality of the kidney Cervical lymphadenopathy Low-set, posteriorly rotated ears Conductive hearing impairment Hypogonadism Posteriorly rotated ears Pneumonia Patent ductus arteriosus Facial telangiectasia Panniculitis Episcleritis Ventriculomegaly Stiff skin Bilateral camptodactyly Megakaryocyte dysplasia Upper eyelid edema Retroperitoneal fibrosis Fever Seborrheic keratosis Abnormal facial shape Finger syndactyly Pyloric stenosis Trigonocephaly Prolonged bleeding time Epicanthus Abnormality of nasopharyngeal adenoids Small for gestational age Telangiectasia of the skin Abnormality of the liver Nonimmune hydrops fetalis Pancreatic islet-cell hyperplasia Long clavicles Ectopic calcification Diaphyseal thickening Metaphyseal cupping Extramedullary hematopoiesis Ulnar deviation of the hand Lethal skeletal dysplasia 11 pairs of ribs Large forehead Hypoplastic fingernail Decreased skull ossification Sclerosis of skull base Misalignment of teeth Preeclampsia Barrel-shaped chest Postaxial foot polydactyly Abnormal lung lobation Epiphyseal stippling Abnormal joint morphology Cystic hygroma Narrow nasal bridge Mesomelia Thoracic hypoplasia Hypoplastic vertebral bodies Vertebral hypoplasia Pleural effusion Short diaphyses Anterior rib punctate calcifications Abnormal ossification involving the femoral head and neck Supernumerary vertebral ossification centers Abnormality of the vertebral spinous processes Laryngeal calcification Tracheal calcification Abnormality of the calcaneus Punctate vertebral calcifications Abnormal foot bone ossification Hepatic calcification Absent or minimally ossified vertebral bodies Horizontal sacrum Absent toenail Abnormality of the scapula Abnormality of cholesterol metabolism Abnormality of the orbital region Ectopic ossification Aplasia/hypoplasia of the extremities Abnormal leukocyte morphology Severe hydrops fetalis Severe short-limb dwarfism Abnormally ossified vertebrae Multiple prenatal fractures Abnormal bone ossification Flared metaphysis Disproportionate short-limb short stature Patchy variation in bone mineral density Increased bone mineral density Abnormality of the clavicle Abnormality of the vertebral column Prominent occiput Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Narrow palate Wormian bones Short toe Osteolytic defects of the phalanges of the hand Bone pain Abnormal vertebral morphology Abnormality of epiphysis morphology Small nail Abnormality of the skin Prominent nose Postural instability Short distal phalanx of finger Craniosynostosis Hyperlordosis Brachycephaly Osteopetrosis Spondylolisthesis Sandal gap Micromelia Short ribs Hydrops fetalis Rhizomelia Short phalanx of finger Bowing of the long bones Omphalocele Abnormal form of the vertebral bodies Postaxial hand polydactyly Limb undergrowth Postaxial polydactyly Pulmonary hypoplasia Platyspondyly Small face Polyhydramnios Polydactyly Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Sternal punctate calcifications Cleft palate Cleft lip Aseptic necrosis Abnormality of female internal genitalia Aplastic anemia Oral leukoplakia Abnormality of the testis White hair Periodontitis Taurodontia Neoplasm of the pancreas Blepharitis Abnormal eyelash morphology Premature loss of teeth Aplasia/Hypoplasia of the skin Testicular atrophy Skin vesicle Macule Neurofibromas Hypermelanotic macule Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Epiphora Tracheoesophageal fistula Myelodysplasia Dermal atrophy Cellular immunodeficiency Abnormality of the pharynx Neoplasm of the skin Esophageal stenosis Hydronephrosis Elevated hepatic transaminase Upslanted palpebral fissure Clinodactyly of the 5th finger Hypospadias Abnormality of cardiovascular system morphology Dilatation Intellectual disability, severe Cardiomyopathy Fatigue Muscular hypotonia Palmar hyperkeratosis Squamous cell carcinoma of the skin Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Hypopigmented skin patches Abnormal intestine morphology Downslanted palpebral fissures Abnormality of the genital system Volvulus Large earlobe Widow's peak Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Shawl scrotum Macrocytic anemia Interstitial pulmonary abnormality Mild short stature Generalized-onset seizure Hyperextensibility of the finger joints Round face Short foot Short palm Joint hypermobility Pulmonic stenosis Hypermetropia Attention deficit hyperactivity disorder Abdominal pain Pectus excavatum Depressivity Obesity Broad philtrum Osteochondritis Dissecans Lymphopenia Leukemia Skin ulcer Hepatic fibrosis Pancytopenia Cerebral calcification Specific learning disability Abnormal blistering of the skin Nail dysplasia Lymphoma Palmoplantar keratoderma Abnormality of skin pigmentation Nail dystrophy Sparse hair Frontoparietal polymicrogyria Hyperhidrosis Recurrent respiratory infections Cerebellar hypoplasia Immunodeficiency Cataract Neoplasm Ataxia Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Recurrent aspiration pneumonia


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