Hepatomegaly, and Syndactyly

Diseases related with Hepatomegaly and Syndactyly

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


Top matches:

Medium match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I


Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i|cda, type ib|cda type 1|congenital dyserythropoietic anemia type 1|cda i

Related symptoms:

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

Medium match PARIS-TROUSSEAU THROMBOCYTOPENIA


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

Medium match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


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 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

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Other less relevant matches:

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


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

Low match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Low match LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Low match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Low match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Syndactyly

Symptoms // Phenotype % cases
Epicanthus Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polyhydramnios Hepatosplenomegaly Abnormal facial shape Global developmental delay Hypertelorism Wide nasal bridge Short ribs Frontal bossing Narrow chest Macrocephaly Respiratory insufficiency Brachydactyly Postaxial polydactyly Depressed nasal bridge Thrombocytopenia Preaxial polydactyly High palate Thoracic dysplasia Elevated hepatic transaminase Cleft lip Micrognathia Long philtrum Intrauterine growth retardation Patent ductus arteriosus Talipes Talipes equinovarus Limb undergrowth Postaxial hand polydactyly Horseshoe kidney Oral cleft Horizontal ribs Seizures Ptosis Intellectual disability Growth delay Inguinal hernia

Rare Symptoms - Less than 30% cases


Median cleft lip Coarctation of aorta Generalized hypotonia Cleft upper lip Respiratory distress Mesomelia Hypoplastic nipples Attention deficit hyperactivity disorder Narrow forehead Dandy-Walker malformation Biparietal narrowing Cerebral calcification Muscular hypotonia Patent foramen ovale Plagiocephaly Hyperbilirubinemia Cholestasis Full cheeks Smooth philtrum Renal cyst Abnormality of the pinna High forehead Short neck Anteverted nares Hypertension Cleft palate Protuberant abdomen Scoliosis Downslanted palpebral fissures Telecanthus Small nail Prolonged bleeding time Neoplasm Hearing impairment Abnormality of the skeletal system Clinodactyly Short long bone Ambiguous genitalia Cutaneous syndactyly Pulmonary hypoplasia Edema Anemia Pallor Failure to thrive Ventricular septal defect Ventriculomegaly Dilatation Microphthalmia Overgrowth Blindness Iris coloboma Hyperreflexia Alopecia Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of the thoracic spine Kyphoscoliosis Agenesis of corpus callosum Hypopigmentation of the skin Osteopenia EEG abnormality Carcinoma Abnormality of the nervous system Nevus Coloboma Corneal opacity Ophthalmoplegia Generalized muscle weakness Facial asymmetry Recurrent fractures Ichthyosis Abnormality of the eye Abnormality of cholesterol metabolism Exotropia Hepatic failure Hypoplasia of penis Sloping forehead Jaundice Specific learning disability Microcornea Downturned corners of mouth Bulbous nose Thin vermilion border Opacification of the corneal stroma Toe syndactyly Abnormality of the liver Conductive hearing impairment Osteoporosis Myoclonus Cerebral atrophy Short nose Gingival overgrowth Arnold-Chiari malformation Abnormal platelet morphology Acanthocytosis Cerebellar cortical atrophy Anisopoikilocytosis Neural tube defect Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Thick upper lip vermilion Elevated alkaline phosphatase Intrahepatic cholestasis Myelomeningocele Meningocele Postaxial foot polydactyly Prominent metopic ridge Pathologic fracture Bilateral talipes equinovarus Portal hypertension Pachygyria Weight loss Reduced tendon reflexes Disproportionate short-limb short stature Broad palm Short finger Milia Short thorax Bowing of the legs Metaphyseal irregularity Anophthalmia Holoprosencephaly Anencephaly Bilateral single transverse palmar creases Short toe Omphalocele Renal hypoplasia Wide intermamillary distance Intestinal malrotation Ascites Natal tooth Broad foot Short foot Accessory spleen Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Hamartoma of tongue Lobulated tongue Median cleft lip and palate Microglossia Pancreatic cysts Cystic renal dysplasia Atelectasis Bifid tongue Preaxial foot polydactyly Hypoplastic scapulae Single umbilical artery Single transverse palmar crease Short palm Aplasia/Hypoplasia of the corpus callosum Vertebral segmentation defect Gangrene Genu recurvatum Dilatation of the cerebral artery Irregular hyperpigmentation Osteomalacia Neurofibromas Basal cell carcinoma Prominent occiput Hemihypertrophy Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Rickets Cataract Abnormality of vision Hemangioma Abnormality of finger Hyperphosphaturia Flat face Nevus sebaceous Posteriorly rotated ears Hydrocephalus Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Epidermal nevus Hypophosphatemic rickets Hemimegalencephaly Cranial asymmetry Abnormality of dental color Adenoma sebaceum Asymmetric growth Cavernous hemangioma Porencephalic cyst Precocious puberty Cloverleaf skull Short phalanx of finger Metaphyseal dysplasia Complete atrioventricular canal defect Vaginal atresia Short clavicles Spinal canal stenosis Increased number of teeth Hamartoma Atrioventricular canal defect Bilateral postaxial polydactyly Sensorineural hearing impairment Cone-shaped epiphysis Fever Fatigue Cerebellar atrophy Nail dysplasia Hypodontia Accessory oral frenulum Hydrometrocolpos Skeletal dysplasia Abnormality of metabolism/homeostasis Synophrys Developmental regression Thin upper lip vermilion Coarse facial features Hyperactivity Abdominal pain Prominent forehead Intellectual disability, mild Hypoplasia of the epiglottis Femoral bowing Cognitive impairment Pain Lateral clavicle hook Pancreatic fibrosis Acetabular spurs Partial atrioventricular canal defect Immunodeficiency Recurrent infections Joint hypermobility Hematuria Lymphedema Pancytopenia Hypotelorism Webbed neck Migraine Tapered finger Hemolytic anemia Leukopenia Bruising susceptibility Cirrhosis Lymphadenopathy Vertigo Nausea and vomiting Neurological speech impairment Leukemia Bone marrow hypocellularity Intracranial hemorrhage Visual loss Abnormality of the optic nerve Recurrent respiratory infections Respiratory failure Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Verrucae Myelodysplasia Hypercoagulability Acute leukemia Acute myeloid leukemia Myeloid leukemia Cellulitis Leukocytosis Chronic otitis media Megakaryocyte dysplasia High, narrow palate Microcephaly Anemia of inadequate production Reticulocytosis Hepatic fibrosis Hydrops fetalis Rhizomelia Left ventricular hypertrophy Anisocytosis Microdontia Sparse eyelashes Ectodermal dysplasia Poikilocytosis Increased total bilirubin Everted lower lip vermilion Stage 5 chronic kidney disease Dolichocephaly Blepharophimosis Narrow palpebral fissure Macrocytic anemia Craniosynostosis Biliary cirrhosis Fused teeth Metopic synostosis Portal fibrosis Bile duct proliferation Scarring Broad philtrum Cholangitis High anterior hairline Cutis laxa Polysplenia Cutaneous finger syndactyly Cystic hygroma Nephronophthisis Sparse eyebrow Chronic kidney disease Widely spaced teeth Sparse hair Congenital hypoplastic anemia Macroglossia Thoracic hypoplasia Abnormality of the mitochondrion Periorbital fullness Prolonged partial thromboplastin time Upper airway obstruction Dysostosis multiplex Episodic abdominal pain Radial deviation of finger 2-3 toe syndactyly Long hallux Cholelithiasis Hyperkinesis Sleep apnea Generalized hirsutism Hoarse voice Low posterior hairline Memory impairment Prolonged prothrombin time Spinal deformities Joint laxity Pectus excavatum Erythroid hyperplasia Proteinuria Retrognathia Acidosis Upslanted palpebral fissure Rod-cone dystrophy Abnormal heart morphology Hernia Expressive language delay Midface retrusion Renal insufficiency Abnormality of the dentition Finger syndactyly Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Absent internal genitalia



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