Abnormal facial shape, and Ascites

Diseases related with Abnormal facial shape and Ascites

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


Top matches:

Low match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Low match MUCOPOLYSACCHARIDOSIS TYPE 7


Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

MUCOPOLYSACCHARIDOSIS TYPE 7 Is also known as mpsvii|beta-glucuronidase deficiency|sly disease|mucopolysaccharidosis type vii|mps7

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Short neck
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 7

Low match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

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Other less relevant matches:

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low 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

Low match MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A


Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008).McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., {183900}) and multiple epiphyseal dysplasia (see, e.g., {132400}).Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity.

MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A Is also known as galactosamine-6-sulfatase deficiency|mps iva|galns deficiency|morquio a disease|morquio syndrome a

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hepatomegaly
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A

Low match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Low match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Ascites

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hydrops fetalis Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Inguinal hernia Intellectual disability Corneal opacity Microcephaly Growth delay Hypertelorism Cardiomegaly Skeletal dysplasia Depressed nasal bridge Global developmental delay Decreased fetal movement Anteverted nares Pulmonary hypoplasia Edema Severe short stature Anemia Ataxia Hepatosplenomegaly Hearing impairment Short nose Osteopenia Short stature Intrauterine growth retardation Short neck Muscular hypotonia Scoliosis

Rare Symptoms - Less than 30% cases


Visceromegaly Brachydactyly Prominent forehead Spondyloepiphyseal dysplasia Dysostosis multiplex Nonimmune hydrops fetalis Congestive heart failure Hypospadias Ventricular septal defect Vacuolated lymphocytes Low-set ears Cleft palate Carious teeth Brachycephaly Micropenis Opacification of the corneal stroma Pneumonia Long philtrum Thrombocytopenia Small for gestational age Abnormal cardiac septum morphology Hepatic failure Recurrent fractures Splenomegaly Decreased skull ossification Limb undergrowth Flared metaphysis Hernia Disproportionate short-limb short stature Wide mouth Kyphosis Hypertrophic cardiomyopathy Cataract Micrognathia Flat face Lymphedema Respiratory distress Hydrocephalus Cerebellar atrophy Platyspondyly Cardiomyopathy Mucopolysacchariduria Ventriculomegaly Webbed neck Telecanthus Cleft lip Abnormality of the skeletal system Epicanthus Fair hair High palate Thin clavicles Ptosis Conjugated hyperbilirubinemia Overtubulated long bones Aplasia/hypoplasia of the extremities Nystagmus Esophageal atresia Short ribs Large elbow Chondroitin sulfate excretion in urine Hydronephrosis Aspiration Flexion contracture Abnormality of the foot Wide nasal bridge Gingival overgrowth Nephrotic syndrome Abnormality of the thorax Premature birth Cerebellar hypoplasia Hypopigmentation of the skin Posteriorly rotated ears Polyhydramnios Severe global developmental delay Respiratory tract infection Fetal ascites Ankyloglossia Dilatation Cerebral atrophy J-shaped sella turcica Metaphyseal irregularity Short femur Lethal skeletal dysplasia Hypokinesia Cutis marmorata Global brain atrophy Pericardial effusion Severe intrauterine growth retardation Aplasia cutis congenita Inverted nipples Central hypotonia Delayed CNS myelination Motor delay Aniridia Microphthalmia Thin ribs Slender long bone Clinodactyly Lipodystrophy Craniosynostosis Short philtrum Micromelia Polymicrogyria Abdominal distention Ambiguous genitalia Oligohydramnios Bowing of the long bones Hyperostosis Progressive microcephaly Redundant skin Cardiac arrest Hypocalcemia Growth abnormality Tricuspid regurgitation Broad thumb Wormian bones Cognitive impairment Adducted thumb Pleural effusion Thoracic hypoplasia Single umbilical artery Unilateral cleft lip Cloverleaf skull Short hallux Multiple prenatal fractures Large fleshy ears Beaded ribs Multiple rib fractures Fractured radius Decreased fibular diameter Pointed proximal second through fifth metacarpals Epileptic encephalopathy Hyperreflexia Asplenia Radial bowing Frontal bossing Atrial septal defect Encephalopathy Delayed skeletal maturation Hip dislocation Poor speech Asthma Brain atrophy Delayed myelination Esotropia Wide intermamillary distance Constricted iliac wings Apnea Epiphyseal deformities of tubular bones Narrow face Hypertension Optic atrophy Intellectual disability, mild Renal insufficiency Weight loss Deeply set eye Elevated hepatic transaminase Proteinuria Dry skin Vertigo Cutaneous photosensitivity Hypoplasia of dental enamel Neoplasm of the skin Neoplasm Cachexia Prominent supraorbital ridges High pitched voice Prematurely aged appearance Poor coordination Absence of subcutaneous fat Bird-like facies Lack of subcutaneous fatty tissue Cryptorchidism Talipes equinovarus Vomiting Diarrhea Patent ductus arteriosus Visual impairment Anterior beaking of lower thoracic vertebrae Dyspnea Sinus bradycardia Myopathy Hypoglycemia Myalgia Macroglossia Hypotension Cyanosis Bradycardia Exercise intolerance Heart murmur Neonatal hypoglycemia Enlarged kidney Myoglobinuria Pulmonary edema Anterior beaking of lumbar vertebrae Biventricular hypertrophy Shortened PR interval Recurrent respiratory infections Umbilical hernia Joint stiffness Hepatitis Metatarsus adductus Abnormality of the hip bone Epiphyseal stippling Arteriovenous malformation Abnormality of the pleura Enlarged thorax Diaphyseal thickening Hypothyroidism Camptodactyly Keratan sulfate excretion in urine Hypoplasia of the odontoid process Mandibular prognathia Joint laxity Hyperlordosis Pectus carinatum Genu valgum Coxa valga Widely spaced teeth Recurrent upper respiratory tract infections Metaphyseal widening Epiphyseal dysplasia Restrictive ventilatory defect Abnormal heart valve morphology Beaking of vertebral bodies Abnormality of the dentition Ovoid vertebral bodies Disproportionate short-trunk short stature Multiple epiphyseal dysplasia Avascular necrosis of the capital femoral epiphysis Prominent sternum Corneal crystals Atlantoaxial dislocation Cervical myelopathy Ulnar deviation of the wrist Cervical cord compression Cervical subluxation Flaring of rib cage Grayish enamel Osteoporosis Decreased beta-galactosidase activity Cholestasis Abnormality of the nervous system Large fontanelles Decreased liver function Abnormal intestine morphology Tachypnea Hypoalbuminemia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Visual loss Myoclonus Arthralgia Mental deterioration Cherry red spot of the macula Abnormality of the kidney Inability to walk Progressive neurologic deterioration Telangiectasia Abnormal vertebral morphology Aortic regurgitation Hemangioma Abnormality of the vertebral column Foam cells Hemophagocytosis Conjunctival telangiectasia Angiokeratoma Arthralgia of the hip Hypoplastic spleen



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