Cleft palate, and Polycystic kidney dysplasia

Diseases related with Cleft palate and Polycystic kidney dysplasia

In the following list you will find some of the most common rare diseases related to Cleft palate and Polycystic kidney dysplasia that can help you solving undiagnosed cases.


Top matches:

Medium match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

Medium match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Medium match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


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 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

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Other less relevant matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


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 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

Medium 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

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Medium match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Medium 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

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Cleft palate and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Renal dysplasia Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Pulmonary hypoplasia Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Polycystic kidney dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Epicanthus Multicystic kidney dysplasia Oligohydramnios Abnormal heart morphology Hypertelorism Intestinal malrotation Hydronephrosis Hydrocephalus Microcephaly Hepatic fibrosis Cleft upper lip Brachydactyly Renal insufficiency Oral cleft Postaxial polydactyly High palate Short stature Bilateral renal dysplasia Agenesis of corpus callosum Respiratory insufficiency Syndactyly Abnormality of the genital system Thoracic dysplasia Short ribs Renal cyst Renal agenesis Renal hypoplasia Micrognathia Narrow chest Proteinuria Retrognathia Talipes equinovarus Short neck Hearing impairment Microphthalmia Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases


Sloping forehead Microretrognathia Clinodactyly Ovarian cyst Bilateral sensorineural hearing impairment Sensorineural hearing impairment Radial deviation of finger Agenesis of permanent teeth Dilatation Thoracic hypoplasia Short long bone Hydrops fetalis Mesomelia Telecanthus Median cleft lip Ventricular septal defect Limb undergrowth Hamartoma of tongue Vesicoureteral reflux Lobulated tongue Horizontal ribs Lateral clavicle hook Bifid tongue Abnormality of the larynx Underdeveloped nasal alae Preaxial polydactyly Brachycephaly Ambiguous genitalia Skeletal dysplasia Flat face Anal atresia Micropenis Severe short stature Bowing of the long bones Microdontia Intellectual disability Hypertension Vaginal atresia Bifid uvula Breech presentation Unilateral renal agenesis Talipes Abnormality of cardiovascular system morphology Cryptorchidism Urethral obstruction Abnormal facial shape Enlarged kidney Occipital encephalocele Encephalocele Depressed nasal ridge Abnormality of the pinna Bilateral renal agenesis Seizures Micromelia Sparse hair Edema Enlarged cochlear aqueduct Abnormality of the dentition Dysarthria Wide nasal bridge Downslanted palpebral fissures Delayed speech and language development Tremor Renal malrotation Branchial fistula Platyspondyly Frontal bossing Arteria lusoria Motor delay Disproportionate shortening of the tibia Branchial cyst Depressivity Macrocephaly Atrial septal defect Body odor Alopecia Abnormality of the middle ear ossicles Craniosynostosis Abnormality of the cerebral white matter Carious teeth Overbite Hypermetropia Cochlear malformation Astigmatism Gustatory lacrimation Cholesteatoma Tricuspid regurgitation Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Microglossia Pachygyria Abnormality of the renal collecting system Cerebellar vermis hypoplasia Short tibia Dilation of lateral ventricles Spondylometaphyseal dysplasia Preaxial hand polydactyly Lacrimal duct aplasia Median cleft lip and palate Hypoplasia of the epiglottis Pectus carinatum Shortening of the tibia Euthyroid goiter Retinal dystrophy Polysyndactyly of hallux Unilateral renal hypoplasia Renal steatosis Hypoplasia of the cochlea Postaxial polysyndactyly of foot Pancreatic fibrosis Abnormality of toe Facial asymmetry Anencephaly Asplenia Single umbilical artery Meningocele Adrenal hypoplasia Foot polydactyly Abnormality of the ureter Natal tooth Bile duct proliferation External genital hypoplasia Hydroureter Arnold-Chiari malformation Spontaneous abortion Spina bifida Omphalocele Abnormality of the uterus Cystic renal dysplasia Hypotelorism Neural tube defect Occipital meningocele Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Cerebral hypoplasia Urethral atresia Ambiguous genitalia, male Meningoencephalocele Elevated alpha-fetoprotein Ambiguous genitalia, female Accessory spleen Cerebellar dysplasia Portal fibrosis Coarctation of aorta Dandy-Walker malformation Stage 5 chronic kidney disease Increased number of teeth Porencephalic cyst Dry hair Abnormality of the pancreas Abnormal cortical gyration Myelomeningocele Arachnoid cyst Atrioventricular canal defect Pancreatic cysts Nephronophthisis Milia Molar tooth sign on MRI Cutaneous syndactyly Hypoplasia of dental enamel Abnormal cerebellum morphology Hepatic cysts Deviation of finger Webbed neck Intrauterine growth retardation Iris coloboma Abnormal cardiac septum morphology Wide mouth Cerebellar hypoplasia Patent ductus arteriosus Splenomegaly Trident hand Narrow naris Ureteropelvic junction obstruction Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Lacrimal duct stenosis Chronic kidney disease Lacrimation abnormality Fibular hypoplasia Short lingual frenulum Fused teeth Short uvula Scoliosis Respiratory distress Small hand Hand polydactyly Metaphyseal widening Cone-shaped epiphysis Metaphyseal irregularity Hypoplasia of the ulna Femoral bowing Metaphyseal dysplasia Transposition of the great arteries Cerebellar cyst Flat acetabular roof Absent tibia Acetabular spurs Metaphyseal spurs Flexion contracture Abnormality of the skeletal system Anteverted nares Thrombocytopenia Hernia Posteriorly rotated ears Prominent nasal bridge Smooth philtrum Convex nasal ridge Congenital diaphragmatic hernia Multiple joint contractures Bilateral postaxial polydactyly Hypoplastic scapulae Long palpebral fissure Abnormality of female internal genitalia Short nose Broad forehead Abdominal distention Anophthalmia Pericardial effusion Hyperechogenic kidneys Equinovarus deformity Falls Primary amenorrhea Abnormal intestine morphology Abnormality of the genitourinary system Tracheoesophageal fistula Non-midline cleft lip Bicornuate uterus Abnormal sacrum morphology Cystic hygroma Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Potter facies Sirenomelia Fetal polyuria Hypospadias Dolichocephaly Hepatic failure Short distal phalanx of finger Ascites Nail dysplasia Fine hair Aplasia/Hypoplasia of the eyebrow Flared metaphysis Aniridia Stenosis of the external auditory canal Paralysis Uterus didelphys Distal renal tubular acidosis Proximal renal tubular acidosis Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Unilateral deafness Abnormality of T cell physiology Parathyroid hypoplasia Unilateral renal dysplasia Myopia Dysphagia Conductive hearing impairment Facial palsy Microtia Aplasia of the uterus Long face Atrial fibrillation Preauricular skin tag Narrow face Congenital hip dislocation Renal hypoplasia/aplasia Atresia of the external auditory canal Cupped ear Epiphora Preauricular pit Ectopic kidney Premature graying of hair Mixed hearing impairment External ear malformation Hypocalcemic seizures Tetany Abnormal lung lobation Stroke Double outlet right ventricle Ulnar deviation of the hand Large fleshy ears Periportal fibrosis Growth delay Nystagmus Muscle weakness Pain Ptosis Cardiomyopathy Rod-cone dystrophy Diabetes mellitus Acidosis Myalgia Hematuria Severe postnatal growth retardation Ectodermal dysplasia Nephrotic syndrome Horizontal nystagmus Hypocalcemia Nephrocalcinosis Ischemic stroke Hyperkinesis Abnormality of the urinary system Polycystic ovaries Psoriasiform dermatitis Progressive sensorineural hearing impairment Basal ganglia calcification Renal tubular acidosis Hypoparathyroidism Craniorachischisis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Hypertrichosis, related diseases and genetic alterations Macrocephaly and Distal sensory impairment, related diseases and genetic alterations Brachydactyly and Postaxial hand polydactyly, related diseases and genetic alterations Cardiomyopathy and Talipes, related diseases and genetic alterations

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