Hepatomegaly, and Ambiguous genitalia

Diseases related with Hepatomegaly and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Ambiguous genitalia 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

Medium 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

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

Other less relevant matches:

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

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

Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

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

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Top 5 symptoms//phenotypes associated to Hepatomegaly and Ambiguous genitalia

Symptoms // Phenotype % cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short nose Growth delay Micrognathia Global developmental delay Syndactyly Clinodactyly Abnormal facial shape Cleft palate Low-set ears Frontal bossing Failure to thrive Seizures Splenomegaly Limb undergrowth Anteverted nares Downslanted palpebral fissures Epicanthus Talipes Hydrocephalus Intellectual disability Macrocephaly Micropenis Pulmonary hypoplasia Ventricular septal defect Polydactyly Brachydactyly Cleft lip Sloping forehead Patent ductus arteriosus Oligohydramnios Short neck Arnold-Chiari malformation Polyhydramnios Cryptorchidism Microphthalmia Disproportionate short-limb short stature Ambiguous genitalia, male Craniosynostosis Dandy-Walker malformation Intestinal malrotation Ascites Posteriorly rotated ears Small for gestational age Severe short stature Generalized hypotonia Wide nasal bridge Hypospadias Talipes equinovarus Preaxial polydactyly Postaxial polydactyly

Rare Symptoms - Less than 30% cases

Low-set, posteriorly rotated ears Renal cyst Natal tooth Holoprosencephaly Omphalocele Aplasia/Hypoplasia of the corpus callosum Scoliosis Anemia Malar flattening Short palm Single umbilical artery Flat face Cleft upper lip Abnormality of the pinna High forehead Midface retrusion Inguinal hernia Cloverleaf skull Wide anterior fontanel Wide nose Skeletal dysplasia Delayed skeletal maturation Proptosis Anencephaly Cystic renal dysplasia Bifid tongue Abnormality of the genital system Prominent forehead Micromelia Polymicrogyria Clinodactyly of the 5th finger Rhizomelia Flexion contracture Ambiguous genitalia, female Asplenia External genital hypoplasia Radial deviation of finger Multicystic kidney dysplasia Bowing of the long bones Retrognathia Joint contracture of the hand Finger clinodactyly Microretrognathia Renal agenesis Abnormal cardiac septum morphology Wide mouth Hydronephrosis Agenesis of corpus callosum Hemivertebrae Lobulated tongue Accessory spleen Coarctation of aorta Ventriculomegaly Edema Long philtrum Hyperbilirubinemia Horseshoe kidney Gingival overgrowth Postaxial hand polydactyly Bulbous nose Toe syndactyly Conductive hearing impairment Hepatosplenomegaly Cataract Meningocele Muscular hypotonia Thoracic dysplasia Femoral bowing Short long bone Short ribs Oral cleft Narrow chest Respiratory insufficiency Bilateral talipes equinovarus Hearing impairment Neural tube defect Abnormality of cholesterol metabolism Polycystic ovaries Carpal synostosis Tarsal synostosis Multiple joint contractures Rocker bottom foot Bifid scrotum Clitoral hypertrophy Radioulnar synostosis Acanthocytosis Choanal stenosis Laryngomalacia Scrotal hypoplasia Choanal atresia Arachnodactyly Lumbosacral meningocele Bilobate gallbladder Camptodactyly Abnormality of abdomen morphology Labial hypoplasia Abnormality of the endocrine system Maternal virilization in pregnancy Recurrent fractures Short philtrum Coarse facial features Osteopenia Pneumonia Motor delay Low maternal serum estriol Foam cells with lamellar inclusion bodies Vesicovaginal fistula Abnormalities of placenta or umbilical cord Bronchomalacia Ulnar bowing Humeroradial synostosis Chordee Abnormality of the thoracic spine Brachycephaly Abnormality of metabolism/homeostasis Decreased fetal movement Vertebral fusion Missing ribs Thoracolumbar scoliosis Double outlet right ventricle Nevus flammeus Increased number of teeth Long palpebral fissure Mesomelia Rib fusion Delayed cranial suture closure Severe generalized osteoporosis Abnormal vertebral morphology Schistocytosis Long eyelashes Dental crowding Broad thumb Hypoplastic labia majora Vaginal atresia Cervical agenesis Aplasia/Hypoplasia involving the metacarpal bones Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Duplication of the distal phalanx of hand Absent uvula Hypoplastic sacrum Thoracic hemivertebrae Forearm undergrowth Short middle phalanx of the 5th finger Broad toe Mesomelic short stature Triangular mouth Renal duplication Clitoral hypoplasia Delayed eruption of permanent teeth Normocytic anemia Abdominal distention Progressive microcephaly Dental malocclusion Aplasia/Hypoplasia of the cerebellum Acute lymphoblastic leukemia Abnormal lung lobation Abnormality of immune system physiology Multiple cafe-au-lait spots Atrioventricular canal defect Colon cancer Nephroblastoma Duodenal atresia Myelodysplasia Abnormality of vision Sleep apnea Aortic regurgitation Osteolysis Cafe-au-lait spot Depressed nasal ridge Abnormality of the skull Abnormality of the upper limb Growth hormone deficiency Cardiomyopathy Congenital hypoplastic anemia Normochromic anemia Fetal distress Anemia of inadequate production Reticulocytosis Hydrops fetalis Hypertrophic cardiomyopathy Vaginal neoplasm Intestinal polyposis Premature chromatid separation Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Short palpebral fissure Triangular face Cardiac arrest Aniridia Aplasia/hypoplasia of the extremities Ankyloglossia Lethal skeletal dysplasia Decreased skull ossification Short hallux Radial bowing Severe intrauterine growth retardation Thin ribs Overtubulated long bones Slender long bone Hypokinesia Flared metaphysis Hyperostosis Redundant skin Growth abnormality Hypocalcemia Thin clavicles Hypoplastic spleen Long face Deeply set eye Abnormality of skin pigmentation Dolichocephaly Muscular dystrophy Corneal opacity Blepharophimosis Abnormality of the eye Apnea Hypothyroidism Neoplasm Glaucoma Abnormal heart morphology Abnormality of cardiovascular system morphology Intellectual disability, mild Atrial septal defect Abnormality of the skeletal system Cognitive impairment Nail dysplasia Hypodontia Macroglossia Hypoplasia of penis Spina bifida Hepatic fibrosis Renal dysplasia Increased mean platelet volume Narrow forehead Encephalocele Hypotelorism Cerebral calcification Cholestasis Renal hypoplasia Webbed neck Iris coloboma Anal atresia Butterfly vertebrae Short toe Spontaneous abortion Polycystic kidney dysplasia Elevated alkaline phosphatase Abnormality of the uterus Meningoencephalocele Elevated alpha-fetoprotein Downturned corners of mouth Cerebellar dysplasia Portal fibrosis Bile duct proliferation Abnormality of the larynx Breech presentation Specific learning disability Microcornea Adrenal hypoplasia Foot polydactyly Abnormality of the ureter Occipital encephalocele Full cheeks Hydroureter Opacification of the corneal stroma Cerebellar hypoplasia Cerebral hypoplasia Hypoplastic nipples Myelomeningocele Microglossia Broad foot Median cleft lip Protuberant abdomen Intrahepatic cholestasis Thick upper lip vermilion Preaxial foot polydactyly Broad palm Short finger Milia Short thorax Bowing of the legs Metaphyseal irregularity Anophthalmia Hypoplastic scapulae Generalized osteoporosis Portal hypertension Fetal ascites Dilatation Bilateral single transverse palmar creases Pathologic fracture Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Periportal fibrosis Atelectasis Hamartoma of tongue Biparietal narrowing Prominent metopic ridge Horizontal ribs Median cleft lip and palate Pancreatic cysts Postaxial foot polydactyly Urethral atresia Urethral obstruction Patent foramen ovale Abnormality of the nose Macrogyria Total anomalous pulmonary venous return Abnormality of earlobe Gingival fibromatosis Anomalous pulmonary venous return Generalized osteosclerosis Abnormal cortical gyration Hypoplastic nasal bridge Large earlobe Osteopetrosis Submucous cleft hard palate Absent septum pellucidum Aplasia/Hypoplasia of the skin Partial agenesis of the corpus callosum Abnormality of neuronal migration Alveolar ridge overgrowth 2-4 toe syndactyly Cupped ear Acetabular spurs Small hand Confusion Pulmonic stenosis Thin upper lip vermilion Umbilical hernia Lateral clavicle hook Pancreatic fibrosis Abdominal pain High palate Respiratory distress Pectus excavatum Hernia Short foot Single transverse palmar crease Ptosis Pain Metatarsus adductus Dermal atrophy Hypoplasia of the bladder Feeding difficulties Abnormality of the liver Wide intermamillary distance Thin vermilion border Hypertonia Hypoplasia of the corpus callosum Hepatic failure Spasticity Anisopoikilocytosis Strabismus Nystagmus Craniorachischisis Occipital meningocele Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Narrow mouth Rigidity Relative macrocephaly Thrombocytopenia Renal hypoplasia/aplasia Hypertension Lissencephaly Abnormal platelet morphology Cerebral atrophy Muscle stiffness Increased bone mineral density Myoclonus Telecanthus Pachygyria Status epilepticus Bifid uvula Osteoporosis Cerebellar cortical atrophy Arthrogryposis multiplex congenita Elevated hepatic transaminase Erythroid hyperplasia


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