Cleft palate, and Renal hypoplasia

Diseases related with Cleft palate and Renal hypoplasia

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


Top matches:

Medium match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1


VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Medium match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

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

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Other less relevant matches:

Medium match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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

Medium match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Medium match SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Medium match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

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

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

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Renal dysplasia Uncommon - Between 30% and 50% cases
Pulmonary hypoplasia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Cryptorchidism Anal atresia Global developmental delay Cleft lip Polydactyly Respiratory insufficiency Intellectual disability Prominent nose Intrauterine growth retardation Tracheoesophageal fistula Polycystic kidney dysplasia Renal agenesis Abnormality of the kidney Retrognathia Wide nasal bridge Low-set ears Micrognathia Microcephaly Hydronephrosis Sensorineural hearing impairment Bifid uvula

Rare Symptoms - Less than 30% cases


Renal hypoplasia/aplasia Bilateral renal dysplasia Microtia Hypoplasia of the radius Absent thumb Esophageal atresia Respiratory failure Growth delay Bilateral renal hypoplasia Abnormality of cardiovascular system morphology Bilateral renal agenesis Epicanthus Encephalocele Multicystic kidney dysplasia Oligohydramnios Occipital encephalocele Iris coloboma Vesicoureteral reflux Hemivertebrae Microcornea Cerebellar hypoplasia Thoracic dysplasia Flat acetabular roof Thoracic hypoplasia Short ribs Abnormality of the pinna Limb undergrowth Microdontia Intestinal malrotation Anemia Postaxial polydactyly Narrow chest Cerebellar vermis hypoplasia Hypospadias Renal insufficiency Preaxial polydactyly High palate Optic nerve hypoplasia Renal cyst Bowing of the long bones Abnormal facial shape Inguinal hernia Mixed hearing impairment Hypoplastic sacrum Talipes External ear malformation Conductive hearing impairment Absence of the sacrum Atrial septal defect Prominent nasal bridge Short palpebral fissure Preauricular skin tag Short stature Protruding ear Coloboma Microretrognathia Molar tooth sign on MRI Natal tooth Spontaneous abortion Relative macrocephaly Cleft soft palate Bell-shaped thorax Hypoplastic pelvis Bifid tongue Horizontal ribs Lobulated tongue Squared iliac bones Hypoplastic facial bones Unicoronal synostosis Abnormal heart morphology Polyhydramnios Hip dislocation Rhizomelia Dandy-Walker malformation Omphalocele Lipoma Corneal astigmatism Neoplasm Tethered cord Depressed nasal bridge Short neck Micropenis Mitral stenosis Leukemia Full cheeks Cafe-au-lait spot Bone marrow hypocellularity Tracheomalacia Ambiguous genitalia Hypoplastic left heart Chromosome breakage Depressed nasal tip Rectovaginal fistula Abnormality of chromosome stability Forearm undergrowth Midface retrusion Patent ductus arteriosus Aortic valve stenosis Macrotia Skeletal dysplasia Coarse facial features Abnormal form of the vertebral bodies Abnormality of the outer ear Abnormal vertebral morphology Cochlear malformation Stenosis of the external auditory canal Lacrimation abnormality Ureteropelvic junction obstruction Lacrimal duct stenosis Overbite Abnormality of the middle ear ossicles Body odor Branchial cyst Arteria lusoria Branchial fistula Renal malrotation Hypoplasia of the cochlea Ectopic kidney Renal steatosis Unilateral renal hypoplasia Euthyroid goiter Lacrimal duct aplasia Abnormality of the renal collecting system Abnormality of the cerebrum Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Cholesteatoma Enlarged cochlear aqueduct Premature graying of hair Preauricular pit Spina bifida Microtia, third degree Hypoplastic iris stroma Anophthalmia Abnormality of the vertebral column Single umbilical artery Abnormality of the optic nerve Aqueductal stenosis Anotia Femoral hernia Arrhinencephaly Radial club hand Abnormality of the fallopian tube Myopia Epiphora Dysphagia Facial palsy Paralysis Long face Flat face Bilateral sensorineural hearing impairment Atrial fibrillation Narrow face Congenital hip dislocation Atresia of the external auditory canal Cupped ear Jejunal atresia Ectopia pupillae Retinal vascular tortuosity Hypotrichosis Potter facies Urethral obstruction Sirenomelia Narrow palpebral fissure Fetal polyuria Scoliosis Choanal atresia Intellectual disability, severe Underdeveloped nasal alae Alopecia Ichthyosis Nonketotic hypoglycemia Hypoplasia of the maxilla Thin vermilion border Convex nasal ridge Decreased testicular size Postaxial hand polydactyly Aganglionic megacolon Cleft upper lip Plagiocephaly Abnormality of brain morphology Hypoplasia of the bladder Short philtrum Urogenital fistula Abnormal palate morphology Abnormal cardiac septum morphology Eyelid coloboma Hypertension Lower eyelid coloboma Talipes equinovarus Bilateral choanal atresia Median cleft palate Proteinuria Unilateral cleft lip Falls Secundum atrial septal defect Hypomimic face Primary amenorrhea Abnormal sacrum morphology Depressed nasal ridge Abnormal intestine morphology Abnormality of the genitourinary system Unilateral renal agenesis 2-3 toe syndactyly Non-midline cleft lip Breech presentation Bicornuate uterus Vaginal atresia Abnormality of female internal genitalia Abnormality of vision Brachydactyly Edema Accessory spleen Wide mouth Fused teeth Short uvula Cataract Ptosis Cognitive impairment Myopathy Ventricular septal defect Agenesis of corpus callosum Deeply set eye Laryngeal web Malabsorption Bilateral postaxial polydactyly Astigmatism Laryngotracheomalacia Spinal dysraphism Butterfly vertebrae Short columella Sclerocornea Duodenal atresia Bilateral choanal atresia/stenosis Sex reversal Peters anomaly Intestinal atresia Short lingual frenulum Short nose Syndactyly Nail dysplasia Blepharophimosis Sparse hair Dolichocephaly Feeding difficulties in infancy Micromelia Oral cleft Hepatic failure Short distal phalanx of finger Abnormality of the eye Ascites Mandibular prognathia Malar flattening Narrow mouth Fine hair Hydrops fetalis Hernia Short long bone Aplasia/Hypoplasia of the eyebrow Abnormality of metabolism/homeostasis Mesomelia Agenesis of permanent teeth Cystic hygroma Hypoplastic scapulae Gustatory lacrimation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Dental malocclusion, related diseases and genetic alterations Wide nasal bridge and Lymphadenopathy, related diseases and genetic alterations Delayed speech and language development and Limb-girdle muscular dystrophy, related diseases and genetic alterations Brachydactyly and Abnormality of the pinna, related diseases and genetic alterations

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