Hepatomegaly, and Oral cleft

Diseases related with Hepatomegaly and Oral cleft

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

Top matches:

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

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Other less relevant matches:

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

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 ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

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

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Oral cleft

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Patent ductus arteriosus Epicanthus Global developmental delay Short ribs Cryptorchidism Failure to thrive Brachydactyly Abnormal heart morphology Anterior creases of earlobe Postaxial hand polydactyly Respiratory distress Macroglossia Micrognathia Cholestasis Abnormality of the face Auricular pit Abnormality of the kidney Abdominal wall defect Large for gestational age Visceromegaly Hemihypertrophy Diastasis recti Nevus flammeus Neonatal hypoglycemia Overgrowth Abnormality of the outer ear Umbilical hernia Inguinal hernia Enlarged kidney Premature birth Acidosis Hypertelorism Thoracic dysplasia Postaxial polydactyly Seizures Generalized hypotonia Low-set ears Renal cyst Narrow chest Cleft lip Syndactyly Respiratory insufficiency Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Nephroblastoma Full cheeks High forehead Omphalocele Abnormality of the ureter Jaundice Abnormality of the dentition Mesomelia Horizontal ribs Rhizomelia Limb undergrowth Hepatosplenomegaly Embryonal neoplasm Microcephaly Ventriculomegaly Cerebellar vermis hypoplasia Intellectual disability Abnormality of the skeletal system Nephronophthisis Renal insufficiency Stage 5 chronic kidney disease Cone-shaped epiphysis Hepatic fibrosis Chronic kidney disease Facial asymmetry Irritability Short long bone Preaxial polydactyly Hypospadias Macrocephaly Elevated hepatic transaminase Clinodactyly Lactic acidosis Lateral clavicle hook Hypoglycemia Congenital megaureter Cataract Feeding difficulties in infancy Talipes equinovarus Posterior helix pit Areflexia Camptodactyly Intrauterine growth retardation Flat face Polymicrogyria Asymmetry of the thorax Single transverse palmar crease Round face Pigmentary retinopathy Large fontanelles Opacification of the corneal stroma Poor suck Cubitus valgus Clitoral hypertrophy Hemifacial hypertrophy Cardiomegaly Mild global developmental delay Malar flattening Spinal canal stenosis Short clavicles Median cleft lip Vaginal atresia Complete atrioventricular canal defect Femoral bowing Accessory oral frenulum Bilateral postaxial polydactyly Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Brachycephaly Abnormal eyebrow morphology Proptosis Mandibular prognathia Ambiguous genitalia Deeply set eye Synophrys Hematuria Abdominal distention Pulmonary hypoplasia Prominent nose Palpebral edema Capillary hemangioma Metatarsus adductus Abnormality of the helix Epiphyseal stippling Patent foramen ovale Ectodermal dysplasia Microdontia Narrow forehead Left ventricular hypertrophy Hydrops fetalis Hyperbilirubinemia Narrow palpebral fissure Sparse eyelashes Plagiocephaly Cutis laxa Widely spaced teeth Sparse eyebrow Smooth philtrum Cystic hygroma Cutaneous finger syndactyly Polysplenia High anterior hairline Biliary cirrhosis Cholangitis Broad philtrum Cloverleaf skull Bile duct proliferation Portal fibrosis Metopic synostosis Everted lower lip vermilion Dolichocephaly Hamartoma Anteverted nares Generalized neonatal hypotonia Optic nerve dysplasia Macrogyria Renal cortical microcysts Brushfield spots Intrahepatic biliary dysgenesis Stippled chondral calcification High palate Hypertension Wide nasal bridge Frontal bossing Short neck Blepharophimosis Midface retrusion Hernia Pectus excavatum Rod-cone dystrophy Upslanted palpebral fissure Retrognathia Proteinuria Telecanthus Joint laxity Abnormality of the pinna Craniosynostosis Sparse hair Increased number of teeth Cutaneous syndactyly Metaphyseal dysplasia Lissencephaly Severe global developmental delay Generalized tonic-clonic seizures Metabolic acidosis Limitation of joint mobility Aciduria Sloping forehead Decreased fetal movement Increased serum lactate Progressive microcephaly Spina bifida Partial agenesis of the corpus callosum Osteopenia Limb hypertonia Hypoplasia of the fovea Enlarged cisterna magna Decreased skull ossification Dilation of lateral ventricles Cleft soft palate Organic aciduria Severe lactic acidosis Congenital microcephaly Spinal dysraphism Temperature instability Muscular hypotonia of the trunk Osteoporosis Hepatic steatosis Leukoencephalopathy Micropenis Delayed speech and language development Muscle weakness Neoplasm Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Dysplastic corpus callosum Decreased activity of mitochondrial complex I Rhabdomyosarcoma Macrovesicular hepatic steatosis Ragged-red muscle fibers Spastic tetraparesis Myoclonus Muscle stiffness Tetraparesis Muscular hypotonia Flexion contracture Feeding difficulties Optic atrophy Bradykinesia Hypertonia Encephalopathy Cerebellar hypoplasia Agenesis of corpus callosum Small anterior fontanelle Ophthalmoplegia Atrioventricular canal defect Ptosis Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Abnormality of earlobe Tethered cord Prune belly Postauricular pit Scoliosis Abnormal facial shape Spasticity Supernumerary nipple Downslanted palpebral fissures Skeletal dysplasia Acetabular spurs Cleft upper lip Hypodontia Nail dysplasia Pancreatic fibrosis Coarctation of aorta Small nail Horseshoe kidney Autistic behavior Neuroblastoma Psoriasiform dermatitis Hydrocephalus Neonatal hypotonia Blindness Abnormality of the cerebral white matter Obesity Visual loss Nyctalopia Genu valgum Retinal degeneration Hepatic failure Retinal dystrophy Developmental regression Short phalanx of finger Oculomotor apraxia Visual impairment Absent speech Glucose intolerance Thoracic hypoplasia Visual field defect Dystonia Bell-shaped thorax Cone-shaped epiphyses of the phalanges of the hand Strabismus Hypoplasia of the corpus callosum Coarse facial features Apnea Fused teeth


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