Cleft palate, and Renal insufficiency

Diseases related with Cleft palate and Renal insufficiency

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


Top matches:

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Low 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:

Low 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

Low match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Low 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

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 OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Cleft palate and Renal insufficiency

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Renal insufficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Hearing impairment Short stature Hypertelorism Hydrocephalus Seizures Polycystic kidney dysplasia Sparse hair Epicanthus Frontal bossing Polydactyly Nephropathy Wide nasal bridge Micrognathia Chronic kidney disease Dilatation Nephronophthisis Agenesis of corpus callosum Tremor Bifid uvula Abnormality of the dentition Syndactyly Multicystic kidney dysplasia Oral cleft Hydronephrosis Abnormal heart morphology Ptosis Microdontia Stage 5 chronic kidney disease Downslanted palpebral fissures Nystagmus Telecanthus Renal cyst Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Clinodactyly Milia Bilateral renal dysplasia Ovarian cyst Median cleft lip Renal dysplasia Bilateral sensorineural hearing impairment Ectodermal dysplasia Abnormality of the pancreas Pancreatic cysts Vesicoureteral reflux Acidosis Rod-cone dystrophy Deviation of finger Lobulated tongue Tongue nodules Sensorineural hearing impairment Short uvula Fused teeth Cystic hygroma Agenesis of permanent teeth Global developmental delay Strabismus Ataxia High forehead Abnormality of the skeletal system Low-set ears Postaxial hand polydactyly Abnormality of the pinna Retrognathia Cloverleaf skull Choanal atresia Hepatic fibrosis Craniosynostosis Conductive hearing impairment Midface retrusion Elevated hepatic transaminase Growth delay Alopecia Cognitive impairment Molar tooth sign on MRI Hand polydactyly Long face Facial asymmetry Anteverted nares Underdeveloped nasal alae Feeding difficulties Mesomelia Dry skin Focal segmental glomerulosclerosis Renal hypoplasia Narrow chest Recurrent infections Pulmonary hypoplasia Cleft lip Edema Postaxial polydactyly Hernia Limb undergrowth Glomerulonephritis Dolichocephaly Preaxial polydactyly Short ribs Hematuria Hydrops fetalis Uterus didelphys Nephrotic syndrome Depressed nasal bridge Ambiguous genitalia Patent ductus arteriosus Pallor Pectus excavatum Hepatomegaly Splenomegaly Lethargy Short neck Inguinal hernia Amenorrhea Abdominal distention Joint laxity Upslanted palpebral fissure Polyhydramnios Weight loss Micropenis Blepharophimosis Smooth philtrum Everted lower lip vermilion Full cheeks Narrow forehead Cholestasis Left ventricular hypertrophy Rhizomelia Hyperbilirubinemia Narrow palpebral fissure Sparse eyelashes Congenital diaphragmatic hernia Short long bone Gustatory lacrimation External ear malformation Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal Mixed hearing impairment Body odor Premature graying of hair Ectopic kidney Preauricular pit Epiphora Cupped ear Atresia of the external auditory canal Abnormality of the middle ear ossicles Branchial cyst Enlarged cochlear aqueduct Abnormality of the renal collecting system Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Cutis laxa Abnormal lacrimal duct morphology Abnormality of the cerebrum Lacrimal duct aplasia Arteria lusoria Euthyroid goiter Unilateral renal hypoplasia Renal steatosis Hypoplasia of the cochlea Cochlear malformation Renal malrotation Branchial fistula Plagiocephaly Biliary cirrhosis Widely spaced teeth Trident hand Abnormality of the face Dandy-Walker malformation Hypodontia Finger syndactyly Clinodactyly of the 5th finger Dystonia Abnormality of toe Abnormality of dental enamel Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Narrow naris Hyperuricemia Short toe Reduced bone mineral density Hepatic cysts Exocrine pancreatic insufficiency Lip pit Hamartoma of tongue Accessory oral frenulum Broad alveolar ridges Hypoplasia of the zygomatic bone Abnormality of the skull Foot polydactyly Coarse hair Tarsal synostosis Open bite Preaxial hand polydactyly Cone-shaped epiphysis Chronic otitis media Brittle hair Gout Porencephalic cyst Patent foramen ovale Bile duct proliferation Depressivity Dysarthria Microcephaly Metopic synostosis Horizontal ribs Portal fibrosis Broad philtrum Carious teeth Cholangitis Congenital hip dislocation High anterior hairline Polysplenia Cutaneous finger syndactyly Sparse eyebrow Abnormality of the cerebral white matter Fever Dry hair Increased number of teeth Elevated serum creatinine Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Velopharyngeal insufficiency Atrioventricular canal defect Abnormal cerebellum morphology Neutropenia Radial deviation of finger Cutaneous syndactyly Microretrognathia Hypoplasia of dental enamel Neoplasm Renal hypoplasia/aplasia Microtia Narrow face Hypospadias Generalized hypotonia Postnatal growth retardation Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Thickening of the glomerular basement membrane Gonadal tissue inappropriate for external genitalia or chromosomal sex Septate vagina Pseudopapilledema Proximal renal tubular acidosis Distal renal tubular acidosis Hypocalcemic seizures Aplasia of the uterus Scoliosis Ovarian gonadoblastoma Tetany Low-grade fever Polymicrogyria Abnormality of eye movement Prominent nasal bridge Apnea Abnormality of the eye Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Muscular hypotonia Anemia Streak ovary Gait disturbance Anuria Motor delay True hermaphroditism Vaginal atresia Severe postnatal growth retardation Retinal dystrophy Fine hair Ascites Cardiomyopathy Nail dysplasia Pain Muscle weakness Intrauterine growth retardation Short lingual frenulum Short distal phalanx of finger Bilateral postaxial polydactyly Thoracic dysplasia Flat acetabular roof Hypoplastic scapulae Bowing of the long bones Thoracic hypoplasia Diabetes mellitus Myalgia Hypoparathyroidism Abnormality of the urinary system Renal tubular acidosis Basal ganglia calcification Progressive sensorineural hearing impairment Unilateral renal agenesis Psoriasiform dermatitis Polycystic ovaries Hyperkinesis Stroke Ischemic stroke Nephrocalcinosis Hypocalcemia Horizontal nystagmus Micromelia Hepatic failure Iris coloboma Highly arched eyebrow Preauricular skin tag Laryngomalacia Abnormality of the genital system Choanal stenosis Turricephaly Proportionate short stature Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Increased intracranial pressure Craniofacial dysostosis Abnormality of the metacarpal bones Arnold-Chiari malformation Abnormal palate morphology Acanthosis nigricans Abnormal form of the vertebral bodies Glomerulosclerosis Inflammatory abnormality of the eye Abnormal sacrum morphology Convex nasal ridge Paralysis Atrial fibrillation Oligohydramnios Renal agenesis Intestinal malrotation Flat face Aplasia/Hypoplasia of the eyebrow Facial palsy Brachyturricephaly Primary amenorrhea Microphthalmia Dysphagia Myopia Membranous nephropathy Bicoronal synostosis Epidermal acanthosis Short metacarpal Apraxia Ambiguous genitalia, male Elongated superior cerebellar peduncle Hypometric saccades Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Breathing dysregulation Biparietal narrowing Diffuse mesangial sclerosis Abnormal renal physiology Ambiguous genitalia, female Delayed gross motor development Oculomotor apraxia Aganglionic megacolon Encephalocele Cerebellar vermis hypoplasia Thickened superior cerebellar peduncle Failure to thrive Dental malocclusion Gonadal dysgenesis Migraine Nevus Hypoplasia of the maxilla Hypopigmentation of the skin Nephroblastoma Glomerulopathy Proptosis Visual impairment Brachycephaly Posteriorly rotated ears Aniridia Malar flattening Male pseudohermaphroditism Gonadoblastoma Optic atrophy Odontogenic neoplasm



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