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.


Top matches:

Medium match MECKEL SYNDROME, TYPE 3; MKS3


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

Medium match MECKEL SYNDROME, TYPE 6; MKS6


Related symptoms:

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

Low match MECKEL SYNDROME


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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Other less relevant matches:

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 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


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

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


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

Low match OROFACIODIGITAL SYNDROME I; OFD1


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

Low match MECKEL SYNDROME, TYPE 1; MKS1


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

Low match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


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

Low 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

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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