Cleft palate, and Hepatic fibrosis
Diseases related with Cleft palate and Hepatic fibrosis
In the following list you will find some of the most common rare diseases related to Cleft palate and Hepatic fibrosis that can help you solving undiagnosed cases.
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Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).
MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3
Related symptoms:
- Cleft palate
- Hydrocephalus
- Polydactyly
- Postaxial polydactyly
- Renal cyst
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about MECKEL SYNDROME, TYPE 3; MKS3
Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
MECKEL SYNDROME Is also known as meckel-gruber syndrome
Related symptoms:
- Microcephaly
- Hypertelorism
- Micrognathia
- Cleft palate
- Cataract
SOURCES:
ORPHANET
MENDELIAN
More info about MECKEL SYNDROME
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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
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 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia
Related symptoms:
- Short stature
- Cleft palate
- Delayed speech and language development
- Motor delay
- Brachydactyly
SOURCES:
OMIM
MENDELIAN
More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).
Related symptoms:
- Global developmental delay
- Short stature
- Hypertelorism
- Micrognathia
- Cleft palate
SOURCES:
OMIM
MENDELIAN
More info about CRANIOECTODERMAL DYSPLASIA 2; CED2
Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).
OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about OROFACIODIGITAL SYNDROME I; OFD1
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
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
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
Top 5 symptoms//phenotypes associated to Cleft palate and Hepatic fibrosis
Symptoms // Phenotype |
% cases |
Polydactyly |
Common - Between 50% and 80% cases
|
Hypertelorism |
Common - Between 50% and 80% cases
|
Hydrocephalus |
Common - Between 50% and 80% cases
|
Micrognathia |
Common - Between 50% and 80% cases
|
Low-set ears |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Cleft palate and Hepatic fibrosis. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Postaxial hand polydactyly
Uncommon Symptoms - Between 30% and 50% cases
Renal cyst
Epicanthus
Polycystic kidney dysplasia
Cleft lip
Pulmonary hypoplasia
Encephalocele
Microcephaly
Short neck
Abnormal heart morphology
Brachydactyly
Wide nasal bridge
Anencephaly
Cleft upper lip
Dandy-Walker malformation
Bile duct proliferation
Syndactyly
Oral cleft
Lobulated tongue
Preaxial polydactyly
Agenesis of corpus callosum
Ventricular septal defect
Anteverted nares
Inguinal hernia
Hernia
High forehead
Posteriorly rotated ears
Retrognathia
Hydronephrosis
Telecanthus
Abnormality of the kidney
Smooth philtrum
Abnormality of the pinna
Short stature
Patent ductus arteriosus
Macrocephaly
Polyhydramnios
Narrow chest
Intestinal malrotation
Short ribs
Horizontal ribs
Hepatomegaly
Frontal bossing
Splenomegaly
Renal insufficiency
Abnormal facial shape
Clinodactyly
Edema
Median cleft lip
Oligohydramnios
Occipital encephalocele
Cystic renal dysplasia
Postaxial polydactyly
Cryptorchidism
Talipes
Accessory spleen
Pancreatic cysts
Sloping forehead
Ambiguous genitalia
Multicystic kidney dysplasia
Rare Symptoms - Less than 30% cases
Pancreatic fibrosis
Abnormality of the genital system
Abnormality of the dentition
Abnormality of cardiovascular system morphology
Polysplenia
Microphthalmia
Craniosynostosis
Bilateral single transverse palmar creases
Cystic liver disease
Radial deviation of finger
Hydrops fetalis
Mesomelia
Dilatation
Full cheeks
Depressed nasal bridge
Portal fibrosis
Hypertension
Ascites
Intellectual disability
Hamartoma of tongue
Median cleft lip and palate
Bowing of the long bones
Seizures
Flat face
Abnormality of the larynx
Respiratory distress
Thoracic dysplasia
Microglossia
Respiratory insufficiency
Milia
Global developmental delay
Underdeveloped nasal alae
Intrauterine growth retardation
Urethral atresia
Limb undergrowth
Abnormality of the skeletal system
Fetal ascites
Omphalocele
Renal dysplasia
Stage 5 chronic kidney disease
Brachycephaly
Asplenia
Skeletal dysplasia
Dolichocephaly
Sparse hair
High palate
Preaxial hand polydactyly
Natal tooth
Single umbilical artery
Microretrognathia
Short long bone
Nephronophthisis
Anophthalmia
Talipes equinovarus
Periportal fibrosis
Patent foramen ovale
Congenital diaphragmatic hernia
Proteinuria
Bifid tongue
Broad palm
Short finger
Short thorax
Disproportionate short-limb short stature
Short toe
Renal hypoplasia
Metaphyseal irregularity
Wide intermamillary distance
Bowing of the legs
Holoprosencephaly
Large placenta
Single transverse palmar crease
Abnormality of the uterus
Webbed neck
Renal agenesis
Hypotelorism
Coarctation of aorta
Spina bifida
Spontaneous abortion
Arnold-Chiari malformation
Hydroureter
External genital hypoplasia
Abnormality of the ureter
Foot polydactyly
Adrenal hypoplasia
Meningocele
Breech presentation
Ambiguous genitalia, male
Short foot
Cerebellar dysplasia
Ambiguous genitalia, female
Elevated alpha-fetoprotein
Meningoencephalocele
Neural tube defect
Cerebral hypoplasia
Urethral obstruction
Hypoplasia of the bladder
Elevated amniotic fluid alpha-fetoprotein
Olfactory lobe agenesis
Protuberant abdomen
Occipital meningocele
Craniorachischisis
Short palm
Hypoplastic nipples
Muscular hypotonia
Broad foot
Hamartoma
Lumbar hyperlordosis
Status epilepticus
Abnormality of pancreas morphology
Open mouth
Nephroblastomatosis
Tall stature
Tented upper lip vermilion
Thymus hyperplasia
Growth abnormality
Hyperinsulinemia
Nephroblastoma
Large for gestational age
Global brain atrophy
Neurodevelopmental delay
Enlarged kidney
Hypoplasia of penis
Capillary hemangioma
Renal neoplasm
Abnormality of upper lip
Lumbar scoliosis
Long upper lip
Pancreatic islet-cell hyperplasia
Broad alveolar ridges
Intestinal atresia
Thick upper lip vermilion
Femoral hernia
Interrupted aortic arch
Volvulus
Visceromegaly
Hypoxemia
Cardiomegaly
Abnormality of the cardiovascular system
Hypoplastic scapulae
Renal hamartoma
Preaxial foot polydactyly
Atelectasis
Pancreatic dysplasia
Bowing of the arm
Intrahepatic bile duct cysts
Absent internal genitalia
Distal ileal atresia
Ileal atresia
Generalized hypotonia
Scoliosis
Neoplasm
Nephrogenic rest
Thickened helices
Ptosis
Hypoplasia of the abdominal wall musculature
Overgrowth
Hyperlordosis
Specific learning disability
Round face
Macroglossia
Abdominal distention
Anal atresia
High, narrow palate
Muscular hypotonia of the trunk
Naevus flammeus of the eyelid
Deeply set eye
Hepatosplenomegaly
Prominent forehead
Hypospadias
Cerebral atrophy
Short nose
Iris coloboma
Sparse eyebrow
Abnormal cardiac septum morphology
Pachygyria
Large fleshy ears
Delayed speech and language development
Motor delay
Atrial septal defect
Severe short stature
Micropenis
Pectus carinatum
Platyspondyly
Hypermetropia
Astigmatism
Retinal dystrophy
Cerebellar vermis hypoplasia
Tricuspid regurgitation
Double outlet right ventricle
Short tibia
Dilation of lateral ventricles
Spondylometaphyseal dysplasia
Lateral clavicle hook
Hypoplasia of the epiglottis
Shortening of the tibia
Polysyndactyly of hallux
Postaxial polysyndactyly of foot
Disproportionate shortening of the tibia
Midface retrusion
Pectus excavatum
Rod-cone dystrophy
Upslanted palpebral fissure
Ulnar deviation of the hand
Abnormal lung lobation
Elevated hepatic transaminase
Furrowed tongue
Hand polydactyly
Abnormal internal genitalia
Cataract
Optic atrophy
Low-set, posteriorly rotated ears
Microcornea
Depressed nasal ridge
Situs inversus totalis
Aplasia/Hypoplasia of the corpus callosum
Male pseudohermaphroditism
Postaxial foot polydactyly
Sclerocornea
Congenital hepatic fibrosis
Aniridia
Ureteral duplication
Aplasia/Hypoplasia of the iris
Abnormal chorioretinal morphology
Aplasia/Hypoplasia of the tongue
True hermaphroditism
Lobar holoprosencephaly
Flexion contracture
Thrombocytopenia
Prominent nasal bridge
Convex nasal ridge
Multiple joint contractures
Flared metaphysis
Long palpebral fissure
Acidosis
Joint laxity
Wide mouth
Abnormality of the pancreas
Facial asymmetry
Abnormal cerebellum morphology
Bifid uvula
Hypoplasia of dental enamel
Cutaneous syndactyly
Molar tooth sign on MRI
Agenesis of permanent teeth
Atrioventricular canal defect
Increased number of teeth
Arachnoid cyst
Myelomeningocele
Abnormal cortical gyration
Ovarian cyst
Abnormality of the cerebral white matter
Dry hair
Porencephalic cyst
Hepatic cysts
Deviation of finger
Narrow naris
Tongue nodules
Hypothalamic hamartoma
Gray matter heterotopias
Alveolar ridge overgrowth
Multiple glomerular cysts
Abnormality of toe
Trident hand
Cerebellar hypoplasia
Carious teeth
Alopecia
Blepharophimosis
Widely spaced teeth
Everted lower lip vermilion
Ectodermal dysplasia
Microdontia
Narrow forehead
Cholestasis
Left ventricular hypertrophy
Rhizomelia
Hyperbilirubinemia
Narrow palpebral fissure
Sparse eyelashes
Plagiocephaly
Cutis laxa
Chronic kidney disease
Depressivity
Cystic hygroma
Cutaneous finger syndactyly
High anterior hairline
Biliary cirrhosis
Cholangitis
Broad philtrum
Cloverleaf skull
Metopic synostosis
Fused teeth
Hearing impairment
Dysarthria
Downslanted palpebral fissures
Tremor
Prominent xiphoid process
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Ptosis and Anal atresia, related diseases and genetic alterations
Peripheral neuropathy and Visual impairment, related diseases and genetic alterations
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