Frontal bossing, and Ascites

Diseases related with Frontal bossing and Ascites

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

Top matches:

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

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

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Other less relevant matches:

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

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

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

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Ascites

Symptoms // Phenotype % cases
Depressed nasal bridge Very Common - Between 80% and 100% cases
Edema Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Ascites. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Polyhydramnios

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Cognitive impairment Ventriculomegaly High forehead Delayed skeletal maturation Strabismus Abnormality of cardiovascular system morphology Hearing impairment Anteverted nares Neoplasm Short neck Inguinal hernia Postnatal growth retardation Intrauterine growth retardation Micrognathia Downslanted palpebral fissures Hepatosplenomegaly Growth hormone deficiency Ventricular septal defect Long philtrum Atrial septal defect Short nose Astigmatism Feeding difficulties in infancy Polydactyly Overgrowth Low-set, posteriorly rotated ears Wide nasal bridge Macroglossia Motor delay Cyanosis Hypogonadism Feeding difficulties Pectus excavatum High palate Nephroblastoma Microcephaly Holoprosencephaly Severe postnatal growth retardation Hypothyroidism Osteopenia Deeply set eye Posteriorly rotated ears Cardiomyopathy Patent ductus arteriosus Pulmonic stenosis Thick vermilion border Cafe-au-lait spot Joint hypermobility Hydrocephalus Prominent forehead Joint laxity Abnormal heart morphology Broad forehead Dolichocephaly Talipes equinovarus Delayed puberty Triangular face Optic atrophy Wide intermamillary distance Abnormality of the skeletal system Nevus Abnormality of the nervous system Hydrops fetalis

Rare Symptoms - Less than 30% cases

Bilateral single transverse palmar creases Pneumonia Fetal ascites Median cleft lip and palate Hypoglycemia Scaphocephaly Ambiguous genitalia Dandy-Walker malformation Renal cyst Oral cleft Splenomegaly Talipes Respiratory insufficiency Syndactyly Microglossia Cleft palate Respiratory distress Abnormality of the eye Sparse hair Severe global developmental delay Cutis laxa Rhabdomyosarcoma Cortical dysplasia Scoliosis Microphthalmia Hernia Arrhythmia Leukemia Abnormality of the skin Multicystic kidney dysplasia Wide nose Hemangioma Aplasia/Hypoplasia of the cerebellum Arnold-Chiari malformation Redundant skin Large for gestational age Multiple cafe-au-lait spots Syringomyelia Arnold-Chiari type I malformation Apnea Megalencephaly Large earlobe Intellectual disability, mild Abnormality of the upper limb Decreased muscle mass Cryptorchidism Neurodevelopmental delay Hyperpigmentation of the skin Depressed nasal ridge Aspiration Hoarse voice Delayed cranial suture closure Pleural effusion Abnormality of digit Failure to thrive in infancy Aspiration pneumonia Short attention span Poor suck Lymphedema Hip dysplasia Ptosis Webbed neck Nystagmus Cataract Hypermetropia Pectus carinatum Pointed chin Gastroesophageal reflux Myopathy Polymicrogyria Hypertension Delayed speech and language development Acanthosis nigricans Capillary malformation Protuberant abdomen Dysarthria Infertility Small for gestational age Intellectual disability, moderate Mitral regurgitation Severe short stature Hypoplasia of the corpus callosum Mitral valve prolapse Esotropia J-shaped sella turcica Tachycardia Coarse facial features Tricuspid regurgitation Kyphoscoliosis Cutis marmorata Pericardial effusion Central hypotonia Proptosis Abdominal distention Congestive heart failure Progressive hearing impairment Abnormality of the skull Wide mouth Heart murmur Epidermal acanthosis Cerebellar atrophy Kyphosis Large face Aortic valve stenosis Vaginal neoplasm Premature chromatid separation Vasculitis Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Postprandial hyperglycemia Stomach cancer Torticollis Hypopnea Concentric hypertrophic cardiomyopathy Bicuspid aortic valve Transitional cell carcinoma of the bladder Subvalvular aortic stenosis Intestinal polyposis Duodenal atresia Shyness Gait disturbance Body odor Triangular mouth Melena Highly arched eyebrow Bruising susceptibility Falls Abnormal bleeding Lymphoma Abnormality of the foot Deep plantar creases Thin nail Abnormal lung lobation Ulnar deviation of the wrist Epistaxis Bladder neoplasm Macrotia Abnormal pulmonary valve morphology Thrombocytopenia Low posterior hairline Duodenal ulcer Fine hair Hematemesis Acute lymphoblastic leukemia Generalized hyperpigmentation Abnormality of immune system physiology Thickened Achilles tendon Enlarged cerebellum Muscular dystrophy Myofiber disarray Vitreomacular adhesion Corneal opacity Tendon rupture Blepharophimosis Alveolar rhabdomyosarcoma Craniosynostosis Lymphangiectasis Congenital neuroblastoma Glaucoma Macrocephaly at birth Clinodactyly of the 5th finger Clinodactyly Blue nevus Systolic heart murmur Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Abnormality of skin pigmentation Loose anagen hair Atrioventricular canal defect Aortic regurgitation Colon cancer Myelodysplasia Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Ganglioneuroblastoma Frontal hirsutism Deep philtrum Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Microretrognathia Long face Osteolysis Finger clinodactyly Neonatal sepsis Choroid plexus papilloma Rhizomelia Short palpebral fissure Bladder carcinoma Coarctation of aorta Sloping forehead Cardiomyocyte hypertrophy Bulbous nose Vestibular Schwannoma Bilateral ptosis Papilloma Apraxia Narrow palate Thick upper lip vermilion Abnormality of the hair Wide anterior fontanel Short lower limbs Decreased body weight Hypoplasia of dental enamel Atrial fibrillation Achilles tendon contracture Thick lower lip vermilion Large forehead Verrucae Short chin Eczema Premature birth Full cheeks Sepsis Central apnea Lack of skin elasticity Tetraplegia Postural instability Sleep disturbance High, narrow palate Hematuria Joint hyperflexibility Abnormality of dental enamel Woolly hair Irritability Hyperglycemia Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Neonatal hypoglycemia Curly hair Keratoconus Reduced subcutaneous adipose tissue Rocker bottom foot Hypoplastic toenails Soft skin Bilateral cryptorchidism Aortic aneurysm Progeroid facial appearance Pyloric stenosis Hyperextensible skin Laryngomalacia Relative macrocephaly Infantile muscular hypotonia Abnormal dermatoglyphics Obstructive sleep apnea Microscopic hematuria Abnormality of the fingernails Thickened nuchal skin fold Fragile nails Barrel-shaped chest Arthrogryposis multiplex congenita Hypertrophic cardiomyopathy Bronchomalacia Concave nail B-cell lymphoma Labial hypoplasia Hydrocele testis Deep palmar crease Asymmetric septal hypertrophy Facial hypotonia Abnormal mitral valve morphology Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Abnormal eyebrow morphology Proximal placement of thumb Hypochromic microcytic anemia Pneumothorax Hyperextensibility of the finger joints Broad femoral neck Overfolded helix Cubitus valgus Abnormality of the thorax Schwannoma Abnormality of earlobe Limited elbow movement Tracheomalacia Cholelithiasis Fetal distress Abnormality of the spleen Chylothorax Carcinoma Abnormality of the subarachnoid space Hyperkeratosis Respiratory failure Cerebral cortical atrophy Hyperhidrosis Osteoporosis Pes cavus Absent speech Cerebral atrophy Renal insufficiency Abnormality of the dentition Dysphagia Myopia Reduced factor X activity Prominent fingertip pads Abnormality of the testis Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Redundant neck skin Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Long eyelashes Split hand Subcutaneous hemorrhage Cachexia Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Premature ovarian insufficiency Reduced tendon reflexes Constrictive pericarditis Increased body weight Insulin resistance Dental crowding Type II diabetes mellitus Pigmentary retinopathy Decreased antibody level in blood Hypodontia Cirrhosis Retinopathy Diabetes mellitus Depressivity Abnormality of nasopharyngeal adenoids Hypoplastic frontal sinuses Pericardial constriction Dysplastic aortic valve Short toe Broad palm Short finger Milia Short thorax Bowing of the legs Metaphyseal irregularity Anophthalmia Preaxial polydactyly Patent foramen ovale Short long bone Disproportionate short-limb short stature Short ribs Omphalocele Brachydactyly Renal hypoplasia Limb undergrowth Intestinal malrotation Single transverse palmar crease Short foot Short palm Pulmonary hypoplasia Flat face Cleft upper lip Narrow chest Abnormality of the pinna Cleft lip Localized skin lesion Focal seizures, afebril Hypoplastic nipples Broad thumb Aggressive behavior Umbilical hernia Dyspnea Mandibular prognathia Hyperactivity Behavioral abnormality Delayed CNS myelination Nonimmune hydrops fetalis Inverted nipples Aplasia cutis congenita Global brain atrophy Lipodystrophy Decreased fetal movement Joint stiffness Epileptic encephalopathy Delayed myelination Brain atrophy Asthma Hepatic failure Poor speech Hip dislocation Abnormal cardiac septum morphology Skeletal dysplasia Brachycephaly Encephalopathy Hyperreflexia Developmental regression Limitation of joint mobility Intervertebral space narrowing Thoracolumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease Abnormality of the optic disc Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Increased mean corpuscular volume Abnormality of the cardiovascular system Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Insomnia Distal arthrogryposis Protruding tongue Recurrent upper respiratory tract infections Increased intracranial pressure Tachypnea Thickened skin Abnormality of the face Recurrent otitis media Pulmonary arterial hypertension Natal tooth Anencephaly Perisylvian polymicrogyria Primary adrenal insufficiency Stroke Generalized cerebral atrophy/hypoplasia Calcific stippling Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Adrenal hypoplasia Thoracic hypoplasia Toe syndactyly Hammertoe Decreased nerve conduction velocity Large fontanelles Pachygyria Heterotopia Cholestasis Peripheral demyelination Progressive visual loss Gliosis Hepatic steatosis Abnormality of the cerebral white matter Abnormality of the liver Finger syndactyly Smooth philtrum Neonatal hypotonia Capillary hemangioma Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Varicose veins Meningioma Severe failure to thrive Postaxial polydactyly Nevus flammeus Telangiectasia of the skin Aplasia/Hypoplasia of the skin Reduced bone mineral density Ischemic stroke Cutaneous syndactyly Shock Purpura Telangiectasia Postaxial hand polydactyly Vesicoureteral reflux Retinal detachment Elevated hepatic transaminase Retrognathia Median cleft lip Periportal fibrosis Jaundice Agenesis of corpus callosum Constipation Midface retrusion Malar flattening Intellectual disability, severe Fatigue Sensorineural hearing impairment Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Hamartoma of tongue Decreased testicular size Lobulated tongue Accessory spleen Horizontal ribs Pancreatic cysts Cystic renal dysplasia Atelectasis Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Hypoplastic scapulae Single umbilical artery Broad foot Hypotension Amenorrhea Upslanted palpebral fissure Pituitary dwarfism Visual loss Hypospadias Dilatation Skeletal muscle atrophy Visual impairment Ectopic anterior pituitary gland Anterior pituitary agenesis Osteoporosis of vertebrae Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Aplasia/Hypoplasia of the breasts Hypogonadotrophic hypogonadism Septo-optic dysplasia Ectopic posterior pituitary Decreased circulating ACTH level Anterior pituitary hypoplasia Absence of secondary sex characteristics Pituitary hypothyroidism Concave nasal ridge Hypopituitarism Absent septum pellucidum Prolonged neonatal jaundice Hypoplastic left heart Adrenal insufficiency Optic nerve hypoplasia Increased corneal curvature


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