Abnormal facial shape, and Hepatic fibrosis

Diseases related with Abnormal facial shape and Hepatic fibrosis

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


Top matches:

Low match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Low match NPHP3-RELATED MECKEL-LIKE SYNDROME


NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

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Other less relevant matches:

Low match INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE


INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Low match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Low match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Low match GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS


Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Low match RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1


RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Low match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Low match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hepatic fibrosis

Symptoms // Phenotype % cases
Abnormality of the kidney Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Oligohydramnios Cholestasis Growth delay Polycystic kidney dysplasia Global developmental delay Intellectual disability Pancreatic cysts Hepatosplenomegaly Pulmonary hypoplasia Intrauterine growth retardation Hypertelorism Portal hypertension Enlarged kidney Dandy-Walker malformation Hepatic cysts Potter facies Patent ductus arteriosus Situs inversus totalis Hernia Microcephaly Failure to thrive Flexion contracture Epicanthus Depressed nasal bridge Stage 5 chronic kidney disease Polydactyly Cirrhosis Micrognathia Encephalocele Ventricular septal defect Respiratory insufficiency Splenomegaly

Rare Symptoms - Less than 30% cases


Multiple glomerular cysts Short stature Abnormality of eye movement Pancreatic dysplasia Diabetes mellitus Macrotia Meningoencephalocele Hearing impairment Bile duct proliferation Biliary cirrhosis Umbilical hernia Occipital encephalocele Retinal dystrophy Aortic valve stenosis Generalized hypotonia Ataxia Coloboma Cutis laxa Small for gestational age Wide mouth Hydronephrosis Thrombocytopenia Pancreatic fibrosis Wide anterior fontanel Clitoral hypertrophy Cerebellar vermis hypoplasia Thin upper lip vermilion Hypothyroidism Brachycephaly Abnormality of the skeletal system Recurrent infections Sensorineural hearing impairment Abnormality of the eye Renal dysplasia Low-set, posteriorly rotated ears Intestinal malrotation Cognitive impairment Abnormality of the liver Telecanthus Respiratory failure Dilatation Renal insufficiency Prominent nasal bridge Abnormal heart morphology Short neck Anteverted nares Esophageal varix Congenital hepatic fibrosis Hypertension Portal fibrosis Cystic renal dysplasia Molar tooth sign on MRI Periportal fibrosis Inguinal hernia Preauricular pit Heterotopia Oculomotor apraxia Tachypnea Cerebellar hypoplasia Chorioretinal coloboma Hypoplasia of the brainstem Protruding tongue Polysplenia Self-mutilation Retinal dysplasia Macrocephaly Aggressive behavior Open mouth Impaired smooth pursuit Large fleshy ears Ulnar deviation of the hand Optic nerve coloboma Agenesis of cerebellar vermis Mandibular prognathia Central apnea Prominent forehead Breathing dysregulation Acidosis Asplenia Apraxia Polymicrogyria Long face Spontaneous abortion Ptosis Muscular hypotonia Abnormality of skin pigmentation Tremor Ureteral atresia Hypoplasia of the corpus callosum Glutaric acidemia Postaxial polydactyly Abnormality of the foot Apnea Absent speech Hepatic failure Downturned corners of mouth Hyperactivity Jaundice Highly arched eyebrow Macroglossia Postaxial hand polydactyly Narrow forehead Short sternum Type I diabetes mellitus Abdominal distention Abnormal pattern of respiration Severe failure to thrive Acanthosis nigricans Cachexia Hyperinsulinemia Precocious puberty Large hands Hyperglycemia Glucose intolerance Decreased muscle mass Hypermelanotic macule Reduced subcutaneous adipose tissue Lipoatrophy Severe intrauterine growth retardation Hearing abnormality Thickened nuchal skin fold Long foot Gynecomastia Concave nasal ridge Small face Ovarian cyst Fasting hypoglycemia Long penis Thick nasal alae Abnormality of the abdominal wall Pancreatic islet-cell hyperplasia Absence of subcutaneous fat Female pseudohermaphroditism Postprandial hyperglycemia Elfin facies Adipose tissue loss Prominent nipples Generalized hirsutism Insulin resistance Abnormal saccadic eye movements Recurrent respiratory infections Abnormality of ocular smooth pursuit Elongated superior cerebellar peduncle Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Enlarged fossa interpeduncularis Hemifacial spasm Occipital myelomeningocele Triangular-shaped open mouth Cryptorchidism Skeletal muscle atrophy Dysphagia Delayed skeletal maturation Severe short stature Gingival overgrowth Hyperkeratosis Proptosis Hypoglycemia Feeding difficulties in infancy Postnatal growth retardation Hirsutism Thick vermilion border High, narrow palate Abnormal lung lobation Nail dysplasia Type II diabetes mellitus Epidermal acanthosis Thick lower lip vermilion Hypertrichosis Double outlet right ventricle Abnormality of glutamine metabolism Aniridia Peripheral neuropathy Large fontanelles Multicystic kidney dysplasia Postaxial foot polydactyly Right ventricular hypertrophy Abnormality of the pancreas Tapetoretinal degeneration Choroid plexus cyst Abnormal biliary tract morphology Abnormal liver parenchyma morphology Muscle weakness Delayed speech and language development Motor delay Talipes equinovarus Polyhydramnios Cerebellar atrophy Midface retrusion Hyporeflexia Distal muscle weakness Hip dislocation Progressive cerebellar ataxia Decreased fetal movement Postnatal microcephaly Exotropia Progressive microcephaly Sensorimotor neuropathy Proximal placement of thumb High forehead Hypertonia Shawl scrotum Depressed nasal ridge Nystagmus Cataract Ventriculomegaly Hydrocephalus Agenesis of corpus callosum Rod-cone dystrophy Intellectual disability, moderate Astigmatism Respiratory distress Congestive heart failure Scarring Dehydration Abnormal lung morphology Absence of renal corticomedullary differentiation Renal hypoplasia/aplasia Chronic kidney disease Multiple renal cysts Chronic lung disease Atelectasis Cholangitis Tubulointerstitial fibrosis Biliary tract abnormality Hypersplenism Hematemesis Hypoplasia of the ear cartilage Azotemia Steatorrhea Exocrine pancreatic insufficiency Long palpebral fissure Cleft palate Sepsis Hepatitis Bilateral sensorineural hearing impairment Choanal atresia Congenital glaucoma Congenital hypothyroidism Hiatus hernia Thoracolumbar scoliosis Buphthalmos Sagittal craniosynostosis Pancreatic hypoplasia Splenic cyst Abnormality of cardiovascular system morphology Hyperlordosis Posteriorly rotated ears Retrognathia Skeletal dysplasia Smooth philtrum Underdeveloped nasal alae Convex nasal ridge Sloping forehead Congenital diaphragmatic hernia Microretrognathia Short long bone Multiple joint contractures Flared metaphysis Craniosynostosis Osteopenia Ankle contracture Hydrops fetalis Anemia Edema Short philtrum Synophrys Thin vermilion border Triangular face Abnormal bleeding Asthma Coarctation of aorta Pancytopenia Telangiectasia Decreased liver function Deep philtrum Glaucoma Poor suck Patent foramen ovale Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Seizures Long philtrum Pneumonia Asymmetry of the breasts



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Intestinal malrotation, related diseases and genetic alterations Macrocephaly and Micromelia, related diseases and genetic alterations Hydrocephalus and Eczema, related diseases and genetic alterations Depressed nasal bridge and Severe short stature, related diseases and genetic alterations Skeletal muscle atrophy and Asthma, related diseases and genetic alterations

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