Cleft palate, and Hydronephrosis

Diseases related with Cleft palate and Hydronephrosis

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42


Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Medium match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Medium match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

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 PFEIFFER SYNDROME TYPE 3


Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

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 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 MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Top 5 symptoms//phenotypes associated to Cleft palate and Hydronephrosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Low-set ears Seizures Micrognathia Anal atresia Cataract Ptosis Growth delay Sensorineural hearing impairment Depressed nasal bridge Nephrocalcinosis Strabismus Short neck Generalized hypotonia

Rare Symptoms - Less than 30% cases


Prominent nasal bridge Renal hypoplasia Abnormality of the kidney Abnormal heart morphology Epicanthus Downslanted palpebral fissures Hypospadias Microcornea Anemia Vesicoureteral reflux Intestinal malrotation Microphthalmia Intrauterine growth retardation Short nose Micropenis Bilateral sensorineural hearing impairment Hypocalcemia Polycystic kidney dysplasia Short long bone Hypercalciuria Scoliosis Wide nasal bridge Hydrocephalus Renal dysplasia Midface retrusion Patent ductus arteriosus Cryptorchidism Finger syndactyly Failure to thrive Multicystic kidney dysplasia Ventricular septal defect High palate Short stature Nystagmus Proteinuria Hepatic fibrosis Microretrognathia Ectodermal dysplasia Hematuria Multiple joint contractures Flared metaphysis Long palpebral fissure Stroke Aniridia Abnormal lung lobation Diabetes mellitus Rod-cone dystrophy Ulnar deviation of the hand Myalgia Acidosis Congenital diaphragmatic hernia Large fleshy ears Periportal fibrosis Muscle weakness Pain Cardiomyopathy Renal insufficiency Double outlet right ventricle Glandular hypospadias Oligohydramnios Anteverted nares Hypoplasia of the radius Tracheoesophageal fistula Absent thumb Esophageal atresia Chromosome breakage Depressed nasal tip Rectovaginal fistula Abnormality of chromosome stability Forearm undergrowth Hypoplastic sacrum Flexion contracture Abnormality of the skeletal system Abnormality of cardiovascular system morphology Sloping forehead Thrombocytopenia Hernia Hypertonia Posteriorly rotated ears Brachycephaly Retrognathia Skeletal dysplasia Telecanthus Visual impairment Smooth philtrum Pulmonary hypoplasia Underdeveloped nasal alae Convex nasal ridge Nephrotic syndrome Chronic kidney disease Horizontal nystagmus Joint hypermobility Malar flattening Clinodactyly Clinodactyly of the 5th finger Narrow mouth Pes planus Thin upper lip vermilion Conductive hearing impairment Broad forehead Synophrys Talipes Thin vermilion border Flat face Delayed speech and language development Delayed eruption of teeth Bifid uvula Esotropia Dental crowding Finger clinodactyly Patent foramen ovale Mixed hearing impairment Severe sensorineural hearing impairment Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Talipes equinovarus Unilateral renal dysplasia Ischemic stroke Tetany Hyperkinesis Cafe-au-lait spot Abnormality of the urinary system Polycystic ovaries Psoriasiform dermatitis Unilateral renal agenesis Progressive sensorineural hearing impairment Basal ganglia calcification Renal tubular acidosis Hypoparathyroidism Severe postnatal growth retardation Vaginal atresia Parathyroid hypoplasia Ovarian cyst Aplasia of the uterus Hypocalcemic seizures Uterus didelphys Distal renal tubular acidosis Proximal renal tubular acidosis Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Bilateral renal dysplasia Unilateral deafness Abnormality of T cell physiology Bone marrow hypocellularity Autism Full cheeks Hypercalcemia Prominent forehead Hypogonadism Atrial septal defect Postnatal growth retardation Respiratory tract infection Craniosynostosis Muscular dystrophy Micromelia Growth hormone deficiency Abnormality of the genital system Brachydactyly Epiphyseal dysplasia Frontal bossing Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Impaired smooth pursuit Cognitive impairment Limb hypertonia Cerebral visual impairment Myopathy Delayed skeletal maturation Macrocephaly Cerebellar hypoplasia Sparse hair Urethral stricture Urogenital sinus anomaly Spasticity Ectopic anus Postaxial foot polydactyly Tarsal synostosis Ventriculomegaly Hypoplasia of the corpus callosum Kyphosis Dilatation Hypoplastic left heart Abnormal cardiac septum morphology Tetralogy of Fallot Short philtrum Congenital cataract Everted lower lip vermilion Abnormality of the metacarpal bones Nevus Tented upper lip vermilion Sparse eyebrow Nevus flammeus Renal hypoplasia/aplasia Aganglionic megacolon Muscular hypotonia Postaxial hand polydactyly Hypsarrhythmia Agenesis of corpus callosum Leukemia Increased intracranial pressure Proptosis High forehead Toe syndactyly Small hand Short foot Limitation of joint mobility EEG abnormality Choanal atresia Broad thumb Amblyopia Horseshoe kidney Arnold-Chiari malformation Respiratory distress Laryngomalacia Tracheomalacia Stenosis of the external auditory canal Short hallux Broad hallux phalanx Aqueductal stenosis Brachyturricephaly Hallux varus Neoplasm Hydrometrocolpos Hyperactivity Microtia Autistic behavior Corneal astigmatism Polydactyly Short palpebral fissure Deeply set eye Abnormality of the pinna Wide mouth Coloboma Delayed myelination Malabsorption Astigmatism Iris coloboma Polymicrogyria Prominent nose Cerebellar vermis hypoplasia Attention deficit hyperactivity disorder Optic nerve hypoplasia Jejunal atresia Preaxial polydactyly Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Peters anomaly Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Cleft hard palate



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