High palate, and Renal hypoplasia

Diseases related with High palate and Renal hypoplasia

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

Top matches:

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

OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

High match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Other less relevant matches:

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

High 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

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

CEREBROFACIOARTICULAR SYNDROME Is also known as cerebrofacioarticular syndrome|van maldergem syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBROFACIOARTICULAR SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Retrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vesicoureteral reflux Hypertelorism Microtia Abnormality of the pinna Short nose Short stature Prominent forehead Low-set ears Abnormal facial shape Generalized hypotonia Dental malocclusion Atresia of the external auditory canal Multicystic kidney dysplasia Anal atresia Conductive hearing impairment Cryptorchidism Oligohydramnios Cleft palate Hydronephrosis Micrognathia Epicanthus Frontal bossing Downslanted palpebral fissures Seizures Renal insufficiency Hypospadias Polydactyly Narrow chest Renal hypoplasia/aplasia Scoliosis Pulmonary hypoplasia Flat face Malar flattening

Rare Symptoms - Less than 30% cases

Neonatal hypotonia Autism Protruding ear Sensorineural hearing impairment Wide nasal bridge Microphthalmia Large fontanelles Finger syndactyly Toe syndactyly Deep philtrum Recurrent urinary tract infections Facial asymmetry Anal stenosis External ear malformation Ptosis Lacrimal duct aplasia Hypoplasia of the corpus callosum High forehead Mixed hearing impairment Ureterocele Growth delay Hypodontia Anteverted nares Hydrocephalus Highly arched eyebrow Congenital hip dislocation Renal agenesis Bilateral sensorineural hearing impairment Feeding difficulties Midface retrusion Agenesis of corpus callosum Abnormality of the dentition Abnormality of the skeletal system Cleft lip Syndactyly High, narrow palate Micromelia Oral cleft Clinodactyly Short neck Ventriculomegaly Delayed speech and language development Abnormality of digit Microdontia Sparse hair Short ribs Polycystic kidney dysplasia Bifid tongue Heterotopia Anteriorly placed anus Intraventricular hemorrhage Craniofacial asymmetry Hypertrichosis Small nail Partial absence of the septum pellucidum Short foot Short palm Tracheomalacia Short clavicles Cutaneous finger syndactyly Wide anterior fontanel Cortical gyral simplification Behavioral abnormality Stage 5 chronic kidney disease Self-injurious behavior Cerebral atrophy Genu recurvatum Hypermetropia Nail dystrophy Mandibular prognathia Tented upper lip vermilion Sacral dimple Elevated hepatic transaminase Diabetes mellitus Ectropion Metopic synostosis Short 4th metacarpal Broad forehead Attention deficit hyperactivity disorder Retinopathy Craniosynostosis Thin upper lip vermilion Jaundice Narrow mouth Polymicrogyria Hyperactivity Upslanted palpebral fissure Inguinal hernia Hernia Dilatation Wide cranial sutures Irregular dentition Thin vermilion border Urinary incontinence Horizontal nystagmus Cutis marmorata Broad face Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Absent septum pellucidum Obsessive-compulsive behavior Hip dysplasia Overfolded helix Sparse eyebrow Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Pigmentary retinopathy Overgrowth Sparse and thin eyebrow Pachygyria Schizophrenia Congenital cataract Foot oligodactyly Abnormal form of the vertebral bodies Abnormality of the ribs Convex nasal ridge Bilateral renal hypoplasia Crossed fused renal ectopia Hip dislocation Short thumb Prominent nasal bridge Short philtrum Deeply set eye Hypothyroidism Proptosis Synostosis of joints Abnormality of the genital system Hemivertebrae Nystagmus Hypoplasia of the radius Absent thumb Congenital hypothyroidism Elbow dislocation Oligodactyly Radioulnar synostosis Systemic lupus erythematosus Synostosis of carpal bones Narrow palate Absent toenail Absent fingernail Laryngomalacia Abnormality of the metacarpal bones Abnormal dermatoglyphics Abnormality of dental enamel Cataract Unicornuate uterus Focal impaired awareness seizure Short palpebral fissure Maturity-onset diabetes of the young Downturned corners of mouth Ovarian cyst Everted lower lip vermilion Hypoplasia of the maxilla Narrow forehead Choanal atresia Wide mouth Upper limb undergrowth Shawl scrotum Long fingers Hypoplasia of the ulna Unilateral renal agenesis Language impairment Blepharophimosis Camptodactyly Talipes equinovarus Subcortical cerebral atrophy Pica Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Abnormality of upper lip Hyperconvex nail Osteopenia Aplasia of the uterus Urethral stenosis Skeletal dysplasia Joint laxity Hyperechogenic kidneys Telecanthus Long toe Pancreatic aplasia Premature graying of hair Hypertonia Low-set, posteriorly rotated ears Omphalocele Hypoplasia of penis Ambiguous genitalia Wide intermamillary distance Underdeveloped nasal alae Cleft upper lip Umbilical hernia Dental crowding Abnormality of cardiovascular system morphology Blindness Microcephaly Central Y-shaped metacarpal Short middle phalanx of the 2nd finger Short 2nd finger Encephalocele Scrotal hypoplasia Clubbing of fingers Vaginal atresia Urethral atresia Female pseudohermaphroditism Abnormality of the middle ear Laryngeal stenosis Subglottic stenosis Abnormal vagina morphology Bicornuate uterus Anophthalmia Abnormal hair pattern Ectopic anus Calvarial skull defect Tracheal stenosis Myelomeningocele Abnormal lung lobation Vertebral segmentation defect Partial duplication of thumb phalanx Median cleft lip Cleft ala nasi Renal cyst Hydrops fetalis Bowing of the long bones Fine hair Limb undergrowth Nail dysplasia Ascites Postaxial polydactyly Aplasia/Hypoplasia of the eyebrow Short distal phalanx of finger Hepatic failure Dolichocephaly Edema Respiratory insufficiency Brachydactyly Short long bone Thoracic hypoplasia Inverted nipples Short uvula Prominent metopic ridge CNS hypomyelination Decreased body weight Tetralogy of Fallot Prominent nose Micropenis Fused teeth Mesomelia Short lingual frenulum Bilateral postaxial polydactyly Thoracic dysplasia Flat acetabular roof Hypoplastic scapulae Cystic hygroma Agenesis of permanent teeth Cryptophthalmos Wide pubic symphysis Macrocephaly Bilateral renal agenesis Renal malrotation Branchial fistula Arteria lusoria Branchial cyst Body odor Abnormality of the middle ear ossicles Overbite Hypoplasia of the cochlea Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal Ectopic kidney Preauricular pit Cochlear malformation Renal steatosis Cupped ear Enlarged cochlear aqueduct Hypertension Motor delay Cognitive impairment Muscular hypotonia Failure to thrive Gustatory lacrimation Cholesteatoma Bilateral renal dysplasia Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Euthyroid goiter Unilateral renal hypoplasia Epiphora Narrow face Midline nasal groove Inflammatory abnormality of the skin Aplasia cutis congenita Metaphyseal dysplasia Overlapping toe Epiphyseal dysplasia Patent foramen ovale Abnormality of the outer ear Depressed nasal ridge Atopic dermatitis Synophrys Postnatal growth retardation Brachycephaly Severe short stature Delayed skeletal maturation Atrial septal defect Malformed lacrimal duct Hypoplasia of the odontoid process Bifid nasal tip Preauricular skin tag Abnormality of the kidney Renal dysplasia Atrial fibrillation Intestinal malrotation Bifid uvula Long face Paralysis Facial palsy Coronal cleft vertebrae Dysphagia Myopia Dysplasia of the femoral head Hypoplastic helices Dysplastic corpus callosum Vertebral clefting Anotia Short fourth metatarsal


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopathy and Hypoplasia of penis, related diseases and genetic alterations Myopathy and Glaucoma, related diseases and genetic alterations Myopathy and Hernia, related diseases and genetic alterations