Depressed nasal bridge, and Ascites

Diseases related with Depressed nasal bridge and Ascites

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


Top matches:

High match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

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

High match OSTEOCRANIOSTENOSIS


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

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Other less relevant matches:

High match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


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

High match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

High match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


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

High match D-BIFUNCTIONAL PROTEIN DEFICIENCY


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

High match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

High match CUTIS MARMORATA TELANGIECTATICA CONGENITA


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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Ascites

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Edema Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Ascites. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hepatosplenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing

Common Symptoms - More than 50% cases


Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Short nose Failure to thrive Growth delay Macrocephaly Short stature Strabismus Polyhydramnios Intrauterine growth retardation Micrognathia Abdominal distention Hearing impairment Prominent forehead Ventriculomegaly Nephroblastoma Skeletal dysplasia Decreased fetal movement Neoplasm High palate Dolichocephaly Wide nasal bridge Microcephaly Hernia Overgrowth Macroglossia Delayed skeletal maturation Epicanthus High forehead Pneumonia Coarse facial features Severe short stature Abnormality of the nervous system Polymicrogyria Inguinal hernia Cardiomegaly Osteopenia Retrognathia Hydrops fetalis Hypospadias Deeply set eye Nonimmune hydrops fetalis

Rare Symptoms - Less than 30% cases


Proptosis Slender long bone Growth abnormality Hypoplasia of the corpus callosum Cyanosis Redundant skin J-shaped sella turcica Hypokinesia Purpura Abnormality of the face Postnatal growth retardation Abnormality of the cardiovascular system Optic atrophy Distal arthrogryposis Developmental regression Polydactyly Progressive hearing impairment Thickened skin Aspiration Thoracic hypoplasia Congestive heart failure Agenesis of corpus callosum Fetal ascites Delayed cranial suture closure Abnormality of digit Severe postnatal growth retardation Aspiration pneumonia Capillary hemangioma Large for gestational age Open mouth High, narrow palate Skeletal muscle atrophy Smooth philtrum Abnormality of the pinna Talipes equinovarus Depressed nasal ridge Neonatal hypotonia Hypogonadism Cortical dysplasia Broad forehead Delayed puberty Infertility Triangular face Nevus Growth hormone deficiency Scaphocephaly Respiratory distress Abnormality of the liver Scoliosis Hypothyroidism Jaundice Severe global developmental delay Elevated hepatic transaminase Oligohydramnios Patent ductus arteriosus Pericardial effusion Long philtrum Progressive neurologic deterioration Telangiectasia Microphthalmia Hydrocephalus Motor delay Cleft palate Abnormality of the kidney Cutis marmorata Cerebellar atrophy Hyperreflexia Kyphosis Cognitive impairment Visual loss Pulmonary hypoplasia Hemangioma Anemia Small for gestational age Global brain atrophy Thrombocytopenia Visceromegaly Hepatic failure Dilation of lateral ventricles Upslanted palpebral fissure Skin erosion Atrial flutter Abnormality of the upper limb Hemihypertrophy Feeding difficulties in infancy Right aortic arch Asymmetric growth Arteriovenous malformation Pectus excavatum Arterial stenosis Cavum septum pellucidum Toe syndactyly Abnormality of the cerebral white matter Decreased nerve conduction velocity Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Adrenal hypoplasia Primary adrenal insufficiency Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Large fontanelles Talipes Pachygyria Heterotopia Abnormality of the lower limb Cholestasis Split hand Peripheral demyelination Progressive visual loss Dilatation Renal cyst Hepatic steatosis Gliosis Cataract Perisylvian polymicrogyria Holoprosencephaly Leukocoria Hypopituitarism Absent septum pellucidum Prolonged neonatal jaundice Hypoplastic left heart Progressive macrocephaly Adrenal insufficiency Displacement of the external urethral meatus Optic nerve hypoplasia Hypogonadotrophic hypogonadism Short attention span Hoarse voice Vascular ring Amenorrhea Decreased testicular size Hypotension Pulmonic stenosis Abnormality of the eye Hypoglycemia Cutis marmorata telangiectatica congenita Hemimegalencephaly Concave nasal ridge Subcutaneous hemorrhage Abnormality of secondary sexual hair Short lower limbs Capillary malformation Visual impairment Varicose veins Nystagmus Ectopic anterior pituitary gland Anterior pituitary agenesis Osteoporosis of vertebrae Facial hemangioma Decreased cervical spine mobility Pituitary hypothyroidism Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Ectopic posterior pituitary Decreased circulating ACTH level Median cleft lip and palate Anterior pituitary hypoplasia Absence of secondary sex characteristics Large earlobe Renal cortical microcysts Cerebral dysmyelination Abnormality of the larynx Abnormality of the spinal cord Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Vesicoureteral reflux Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Congenital nonbullous ichthyosiform erythroderma Thick vermilion border Overlapping fingers Abnormality of the skin Fetal akinesia sequence Cardiorespiratory arrest Congenital ichthyosiform erythroderma Petechiae Postaxial hand polydactyly Multicystic kidney dysplasia Shock Cutaneous syndactyly Retinal detachment Hepatic necrosis Multiple joint contractures Ventricular septal defect Oral cleft Leukemia Stroke Joint laxity Abnormal heart morphology Arrhythmia Joint hypermobility Abnormality of cardiovascular system morphology Syndactyly Postaxial polydactyly Downslanted palpebral fissures Myocardial necrosis Mild fetal ventriculomegaly Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Abnormality of coagulation Neonatal respiratory distress Meningioma Flexion contracture Ischemic stroke Arnold-Chiari malformation Hypertonia Respiratory insufficiency Reduced bone mineral density Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Dysphagia Telangiectasia of the skin Syringomyelia Splenomegaly Spasticity Generalized cerebral atrophy/hypoplasia Calcific stippling Nevus flammeus Arnold-Chiari type I malformation Severe failure to thrive Finger syndactyly Chylous ascites Cerebral hypoplasia Megalencephaly Cutis laxa Hyperkeratosis Akinesia Underdeveloped nasal alae Apathy Pleural effusion Congenital contracture Ectropion Intracranial hemorrhage Poor suck Knee flexion contracture Interphalangeal joint contracture of finger Pancytopenia Cerebral calcification Premature birth Narrow mouth Abnormal bleeding Metabolic acidosis Everted lower lip vermilion Ichthyosis Abnormality of eye movement Arthrogryposis multiplex congenita Microtia Camptodactyly Apnea Low-set, posteriorly rotated ears Opisthotonus Hydronephrosis Constipation Decreased skull ossification Behavioral abnormality Short neck Abnormality of the skeletal system Hypoplastic spleen Overtubulated long bones Thin clavicles Aplasia/hypoplasia of the extremities Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Short hallux Mandibular prognathia Asplenia Radial bowing Severe intrauterine growth retardation Aniridia Thin ribs Flared metaphysis Hyperostosis Disproportionate short-limb short stature Hypocalcemia Cardiac arrest Hyperactivity Dyspnea Bowing of the long bones Recurrent upper respiratory tract infections Thoracolumbar kyphosis Increased mean corpuscular volume Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Protruding tongue Heart murmur Increased intracranial pressure Kyphoscoliosis Tachypnea Mitral regurgitation Recurrent otitis media Pulmonary arterial hypertension Mitral valve prolapse Limitation of joint mobility Tachycardia Joint stiffness Aggressive behavior Umbilical hernia Progressive microcephaly Ambiguous genitalia Hypochromic anemia Dysostosis multiplex Atrial septal defect Decreased beta-galactosidase activity Cherry red spot of the macula Arthralgia of the hip Angiokeratoma Mucopolysacchariduria Vacuolated lymphocytes Conjunctival telangiectasia Hemophagocytosis Foam cells Abnormality of the vertebral column Brachycephaly Spondyloepiphyseal dysplasia Aortic regurgitation Opacification of the corneal stroma Abnormal vertebral morphology Inability to walk Corneal opacity Mental deterioration Arthralgia Myoclonus Ataxia Encephalopathy Wide mouth Limb undergrowth Aplasia cutis congenita Recurrent fractures Micromelia Short philtrum Craniosynostosis Micropenis Clinodactyly Brachydactyly Delayed CNS myelination Central hypotonia Inverted nipples Tricuspid regurgitation Abnormal cardiac septum morphology Lipodystrophy Broad thumb Epileptic encephalopathy Wide intermamillary distance Esotropia Delayed myelination Brain atrophy Asthma Poor speech Hip dislocation Inspiratory stridor Hyperplasia of the maxilla Midface retrusion Tall stature Renal neoplasm Polysplenia Enlarged kidney Hamartoma Neurodevelopmental delay Hyperinsulinemia Polycystic kidney dysplasia Tented upper lip vermilion Bilateral single transverse palmar creases Hepatic fibrosis Renal dysplasia Volvulus Status epilepticus Lumbar hyperlordosis Congenital diaphragmatic hernia Hypoplasia of penis Specific learning disability Round face Flat face Hyperlordosis Muscular hypotonia of the trunk Posteriorly rotated ears Thick upper lip vermilion Hypoxemia Renal insufficiency Naevus flammeus of the eyelid Malar flattening Intellectual disability, severe Fatigue Sensorineural hearing impairment Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Abnormality of pancreas morphology Thickened helices Nephroblastomatosis Thymus hyperplasia Abnormality of upper lip Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Interrupted aortic arch Cerebral atrophy Ptosis Abnormality of the optic disc Localized skin lesion Cirrhosis Astigmatism Retinopathy Intellectual disability, moderate Diabetes mellitus Depressivity Cardiomyopathy Dysarthria Feeding difficulties Abnormality of nasopharyngeal adenoids Dysplastic aortic valve Decreased antibody level in blood Focal seizures, afebril Intervertebral space narrowing 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 Hypodontia Pigmentary retinopathy Cryptorchidism Insulin-resistant diabetes mellitus Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Pericarditis Type II diabetes mellitus Pulmonary fibrosis High pitched voice Premature ovarian insufficiency Cachexia Reduced tendon reflexes Acanthosis nigricans Pointed chin Increased body weight Insulin resistance Dental crowding Epidermal acanthosis Blue nevus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Tetralogy of Fallot, related diseases and genetic alterations Frontal bossing and Deeply set eye, related diseases and genetic alterations Autoimmunity and Arachnodactyly, related diseases and genetic alterations

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