Cleft palate, and Pes cavus

Diseases related with Cleft palate and Pes cavus

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


Top matches:

Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


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

Medium match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Medium match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

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Other less relevant matches:

Medium match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Medium match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Medium match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Medium match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Medium match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Pes cavus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Strabismus Hearing impairment Cryptorchidism High palate Atrial septal defect Growth delay Microcephaly Clinodactyly of the 5th finger Cataract Upslanted palpebral fissure Prominent forehead Pes planus Brachycephaly Intrauterine growth retardation Frontal bossing Ventricular septal defect Sensorineural hearing impairment Myopia Hypertelorism Abnormal heart morphology Failure to thrive Severe short stature Depressed nasal bridge Inguinal hernia Pectus excavatum Abnormality of the dentition Umbilical hernia Polydactyly Ataxia Single transverse palmar crease Prominent nose Joint laxity Hypospadias Clinodactyly Ventriculomegaly Facial asymmetry Abnormal facial shape Anal atresia Decreased testicular size Brachydactyly Thin upper lip vermilion Posteriorly rotated ears Sacral dimple Hypoplasia of the corpus callosum Long philtrum Malar flattening Delayed speech and language development Cleft lip Feeding difficulties Low-set ears Wide nasal bridge

Rare Symptoms - Less than 30% cases


Craniosynostosis Syndactyly Pain Abnormality of the skeletal system Dilatation Microcornea Hydrocephalus Camptodactyly Patent ductus arteriosus Retrognathia Tapered finger Triangular face Abnormal cardiac septum morphology Abnormality of the pinna Small hand Bulbous nose Abnormal cortical gyration Smooth philtrum Hypermetropia Hip dislocation Low-set, posteriorly rotated ears Hydronephrosis Downslanted palpebral fissures Generalized hypotonia Hyperactivity Intellectual disability, moderate Hyperlordosis Postnatal growth retardation Narrow face Short palm Synophrys Pulmonic stenosis Short foot Narrow palate Joint contracture of the hand Decreased fetal movement Dental crowding Bifid uvula Postaxial polydactyly Pachygyria Arachnodactyly Hypoplasia of dental enamel Microtia Short palpebral fissure Abnormality of cardiovascular system morphology Mandibular prognathia Edema Macrocephaly Anosmia Visual impairment Intellectual disability, severe Hypothalamic gonadotropin-releasing hormone deficiency Anterior hypopituitarism Behavioral abnormality Iris coloboma Epicanthus Bimanual synkinesia Cerebral atrophy Short nose Anteverted nares Recurrent fractures Hyposmia Paraplegia Skeletal dysplasia Abnormal renal morphology Obesity Kyphosis Ptosis Anxiety Protruding ear Nystagmus Micropenis Delayed puberty Poor suck Oral cleft Conductive hearing impairment Ichthyosis Delayed skeletal maturation Renal agenesis Mild short stature Hypotelorism Gynecomastia Hypogonadotrophic hypogonadism Polyhydramnios Hypothyroidism Cerebral cortical atrophy Leukemia Moderately short stature Phimosis Abnormal vertebral morphology Anteverted ears Macrodontia Lissencephaly Broad columella Hoarse voice Thin eyebrow Heterotaxy Increased body weight Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Hypercholesterolemia Sprengel anomaly Abnormality of the outer ear Round ear Falls Sinusitis Aggressive behavior Macroglossia Gastroesophageal reflux High forehead EEG abnormality Deeply set eye Delayed eruption of teeth Abnormality of the kidney Constipation Paralysis Lethargy Dry skin Drooling Sleep disturbance Retinal detachment Full cheeks Esotropia Narrow foot Heterotopia Decreased head circumference Abnormal hair laboratory examination Motor delay Peripheral neuropathy Stereotypy Nephropathy Omphalocele Hyporeflexia Broad-based gait Hypertriglyceridemia Midface retrusion Abnormality of the cardiovascular system Otitis media Abnormality of metabolism/homeostasis Areflexia Paresthesia Excessive daytime sleepiness Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Broad neck Hypoplasia of the uterus Blurred vision Preauricular pit Proximal placement of thumb Short metatarsal Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Renal hypoplasia/aplasia Spina bifida occulta Stenosis of the external auditory canal Intellectual disability, progressive Hemivertebrae Multicystic kidney dysplasia Short toe Preauricular skin tag Wide anterior fontanel Rhizomelia Decreased body weight Limb undergrowth Wide intermamillary distance Short columella Diastasis recti Short metacarpal Birth length less than 3rd percentile Agenesis of maxillary lateral incisor Bilobate gallbladder Anterior chamber synechiae Intestinal fistula Square pelvis bone Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Hypoplasia of the vagina Exaggerated cupid's bow Hypoplastic labia majora Mesomelic short stature Rieger anomaly Clitoral hypoplasia Limited elbow movement Abnormality of the pulmonary artery Biliary tract abnormality Ureteral duplication Peters anomaly Communicating hydrocephalus Retinal coloboma Webbed neck Round face Self-injurious behavior Chronic constipation Recurrent ear infections Cavum septum pellucidum Deep palmar crease Abnormality of the larynx Broad face Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Self-mutilation Velopharyngeal insufficiency Overweight Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Impulsivity Everted upper lip vermilion High hypermetropia Brain atrophy Sleep-wake inversion Thin vermilion border Cleft upper lip Micromelia Toe syndactyly Corneal opacity Wide mouth Feeding difficulties in infancy Glaucoma Agenesis of corpus callosum Optic atrophy Frequent temper tantrums Recurrent aspiration pneumonia Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Prominent metopic ridge Sloping forehead Spastic diplegia Folate deficiency Pectus carinatum Proptosis Osteoporosis Hernia Talipes equinovarus Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Median cleft palate Dolichocephaly Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Broad forehead Joint hypermobility Foot dorsiflexor weakness Striae distensae Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Spondylolisthesis High anterior hairline Aortic dissection Dilatation of the cerebral artery Disproportionate tall stature Chest pain Myopathic facies Aortic aneurysm Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Exotropia Blue sclerae Mitral valve prolapse Lower limb hyperreflexia Gingival overgrowth Dural ectasia Microphallus Decreased circulating follicle stimulating hormone level Olfactory lobe agenesis Decreased circulating luteinizing hormone level Alobar holoprosencephaly Eunuchoid habitus Bilateral renal agenesis Testicular atrophy Sparse pubic hair Total anosmia Anodontia Bilateral cryptorchidism Unilateral renal agenesis Azoospermia Holoprosencephaly Abnormality of eye movement Abnormality of the eye Hypogonadism Leydig cell insensitivity to gonadotropin Muscle weakness Recurrent otitis media Decreased fertility Eczema Neutropenia Generalized tonic-clonic seizures Thrombocytopenia Erectile abnormalities Dyspareunia Breast hypoplasia Abnormality of female internal genitalia Abnormality of color vision Muscular hypotonia Abnormality of the voice Reduced number of teeth Reduced bone mineral density Primary amenorrhea Hypoplasia of penis Gait disturbance Tremor Dysarthria Arterial tortuosity Protrusio acetabuli Cupped ear Large basal ganglia Microphthalmia Intellectual disability, mild Blindness Skeletal muscle atrophy Hyperreflexia Spasticity Hypoplasia of proximal fibula Hypoplasia of proximal radius Diabetes mellitus Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormally large globe Alopecia Narrow mouth Cone-shaped epiphyses of the phalanges of the hand Tetralogy of Fallot Chorioretinal coloboma Failure to thrive in infancy Nasal speech Cachexia Abnormality of the hair Situs inversus totalis Renal hypoplasia Abnormality of the ribs Hypoplasia of the maxilla Macrotia High, narrow palate Long face Spastic paraplegia Short philtrum Coloboma Sparse hair Joint stiffness Abnormality of the nervous system Chromosome breakage Severe intrauterine growth retardation Mild myopia Recurrent respiratory infections Renal dysplasia Choanal atresia Hypertrichosis Narrow forehead Dandy-Walker malformation Hip dysplasia Astigmatism Cerebellar hypoplasia Lower limb asymmetry Respiratory distress Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Descending thoracic aorta aneurysm Pulmonary artery aneurysm Absent distal phalanges Ascending aortic dissection Abnormality of the genitourinary system Flared nostrils Proportionate short stature Cerebellar vermis hypoplasia Dislocated radial head Acute myeloid leukemia Myeloid leukemia Clitoral hypertrophy Myelodysplasia Patent foramen ovale Sandal gap Elbow flexion contracture Pancytopenia Abnormality of thyroid physiology Convex nasal ridge Dental malocclusion Thick eyebrow Talipes Small for gestational age Blepharophimosis Anemia Unilateral breast hypoplasia Microtia, second degree



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