High palate, and Renal agenesis

Diseases related with High palate and Renal agenesis

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

Top matches:

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Other less relevant matches:

RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION Is also known as rubinstein-taybi deletion syndrome|rsts deletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

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

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

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short philtrum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Unilateral renal agenesis Cryptorchidism Hearing impairment Microcephaly Brachydactyly Cleft palate Short stature Sensorineural hearing impairment Feeding difficulties Hypertelorism Epicanthus Bilateral sensorineural hearing impairment Broad nasal tip High forehead Downslanted palpebral fissures Scoliosis Myopia Abnormal facial shape

Rare Symptoms - Less than 30% cases

Delayed speech and language development Hypogonadism Cerebral atrophy Aplasia of the vagina Abnormality of the kidney Prominent nose Clinodactyly of the 5th finger Micrognathia Broad hallux Strabismus Facial asymmetry Dandy-Walker malformation Small nail Intestinal malrotation Short distal phalanx of finger Muscular hypotonia Frontal bossing Pulmonary hypoplasia Ventricular septal defect Growth delay Bilateral renal agenesis Nail dystrophy Convex nasal ridge Protruding ear Renal insufficiency Multicystic kidney dysplasia Obesity Synophrys Renal hypoplasia Oligohydramnios Primary amenorrhea Amenorrhea Retrognathia Renal hypoplasia/aplasia Hydronephrosis Aplasia of the uterus Microphthalmia Wide nasal bridge Congenital hip dislocation Enlarged cochlear aqueduct Cholesteatoma Gustatory lacrimation Depressed nasal bridge Behavioral abnormality Lacrimal duct stenosis Narrow face Preauricular skin tag Renal dysplasia Atrial fibrillation Polycystic kidney dysplasia Malar flattening Microdontia Vesicoureteral reflux Bifid uvula Atresia of the external auditory canal Cupped ear Dilatated internal auditory canal Branchial fistula Ureteropelvic junction obstruction Lacrimation abnormality Overbite Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Premature graying of hair Body odor Ectopic kidney Branchial cyst Arteria lusoria Renal malrotation Incomplete partition of the cochlea type II Preauricular pit Epiphora Cochlear malformation Hypoplasia of the cochlea Renal steatosis Bilateral renal dysplasia Unilateral renal hypoplasia Euthyroid goiter Lacrimal duct aplasia Abnormality of the renal collecting system Abnormality of the cerebrum Abnormal lacrimal duct morphology Abnormality of the middle ear ossicles Hypermetropia Diabetes mellitus Downturned corners of mouth Optic atrophy Anteverted nares Respiratory distress Blindness Long philtrum Abnormal heart morphology Hyporeflexia Recurrent respiratory infections Coarse facial features Neonatal hypotonia Abnormality of the nervous system Respiratory tract infection Wide mouth Bulbous nose Everted lower lip vermilion Low-set ears Triphalangeal thumb Prominent nasal tip Cystic renal dysplasia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Anonychia Abnormal dermatoglyphics Polyneuropathy Abnormality of the fingernails Short phalanx of finger Hypsarrhythmia High myopia Abnormality of the skin Nail dysplasia Peripheral neuropathy Cataract Autism Language impairment Mandibular prognathia Elevated hepatic transaminase Long face Stage 5 chronic kidney disease Short palm Short foot Highly arched eyebrow Hypertrichosis Recurrent urinary tract infections Large fontanelles Sparse and thin eyebrow Horizontal nystagmus Schizophrenia Focal impaired awareness seizure Long fingers Unicornuate uterus Hyperconvex nail Pancreatic aplasia Pica Ureteral atresia Hypoplasia of the bladder Abnormality of upper lip Ureterocele Subcortical cerebral atrophy Shawl scrotum Urethral stenosis Hyperechogenic kidneys Long toe Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Flat face Deeply set eye Microtia Hypotelorism Facial hirsutism Aplasia/Hypoplasia of the fallopian tube Ataxia Pes cavus Micropenis Cleft lip Abnormality of the eye Delayed puberty Abnormality of eye movement Oral cleft Ichthyosis Decreased testicular size Gynecomastia Frontal balding Hypogonadotrophic hypogonadism Holoprosencephaly Azoospermia Anosmia Bilateral cryptorchidism Anodontia Sparse pubic hair Hyposmia Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Eunuchoid habitus Increased serum testosterone level Abnormal vagina morphology Decreased circulating luteinizing hormone level Bifid nasal tip Narrow mouth Thin upper lip vermilion Coloboma Corneal opacity Hypoplasia of the maxilla Ectodermal dysplasia Omphalocele Abnormality of the hair Anophthalmia Anteriorly placed anus Anal stenosis Eyelid coloboma Abnormal hair pattern Vaginal atresia Shield chest Broad columella Nasolacrimal duct obstruction Upper eyelid coloboma Cryptophthalmos Ablepharon Short neck Thick eyebrow Hirsutism Cubitus valgus Acne Hypoplasia of the uterus High anterior hairline Abnormality of the ovary Alobar holoprosencephaly Olfactory lobe agenesis Paralysis Drooling Arachnoid cyst Broad neck Talipes equinovarus Absent speech Hernia Brachycephaly Hyperactivity Aggressive behavior Low-set, posteriorly rotated ears Autistic behavior Joint hypermobility Tetralogy of Fallot Stereotypy Precocious puberty Overlapping toe 2-3 toe syndactyly Neurodevelopmental delay Gonadal dysgenesis Echolalia Abnormality of brain morphology Severe expressive language delay Self-biting Severe receptive language delay Dysphagia Hydrocephalus Conductive hearing impairment Facial palsy Abnormality of the pinna Protruding tongue Relative macrocephaly Hypothalamic gonadotropin-releasing hormone deficiency Nevus sebaceous Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Failure to thrive Recurrent infections Feeding difficulties in infancy Sleep disturbance Broad thumb Hypoplastic left heart Low hanging columella Polysplenia Facial hemangioma Facial hypertrichosis Abnormality of the hairline Wide anterior fontanel Macrocephaly Abnormality of the skeletal system Atrial septal defect Syndactyly Clinodactyly Patent ductus arteriosus Cerebellar hypoplasia Upslanted palpebral fissure Camptodactyly Abnormal cardiac septum morphology Broad forehead Poor speech Low posterior hairline Profound sensorineural hearing impairment


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