Cleft palate, and Anxiety

Diseases related with Cleft palate and Anxiety

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


Top matches:

Medium match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Medium match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Medium match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

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Other less relevant matches:

Medium match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match KBG SYNDROME


KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KBG SYNDROME

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Medium match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Attention deficit hyperactivity disorder Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Autism

Common Symptoms - More than 50% cases


Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Downslanted palpebral fissures Gastroesophageal reflux Hyperactivity Generalized hypotonia Depressed nasal bridge Failure to thrive Midface retrusion Abnormality of cardiovascular system morphology Abnormality of the dentition High palate Feeding difficulties Stereotypy Thin upper lip vermilion Short philtrum Low-set ears Short nose Growth delay Aggressive behavior Clinodactyly of the 5th finger Smooth philtrum Mandibular prognathia Constipation Hearing impairment Scoliosis Brachycephaly Strabismus Anteverted nares Epicanthus Muscular hypotonia Broad forehead Hernia Wide nasal bridge Neurological speech impairment Gait disturbance Macrocephaly Poor speech High forehead Behavioral abnormality Pectus excavatum Dental crowding Autistic behavior Clinodactyly Posteriorly rotated ears Macrotia Cryptorchidism Depressivity Talipes equinovarus Ptosis Single transverse palmar crease Long philtrum Prominent nasal bridge

Rare Symptoms - Less than 30% cases


Flexion contracture Hyperreflexia Bipolar affective disorder Abnormality of dental morphology Spasticity Flat occiput Oligodontia Otitis media Oral-pharyngeal dysphagia Malar flattening Failure to thrive in infancy Sleep apnea Hypercholesterolemia Abnormality of the pharynx Talipes Sleep disturbance Drooling Tented upper lip vermilion Deeply set eye Dental malocclusion Triangular face Small for gestational age Short metacarpal Abnormality of the skeletal system Thick eyebrow Intellectual disability, severe Joint laxity Intellectual disability, moderate Respiratory tract infection Nasal speech Narrow face Thick vermilion border Wide nose Facial asymmetry Joint hyperflexibility Prominent forehead Long face Ventricular septal defect Synophrys Tapered finger Aspiration Broad face Absent speech Conductive hearing impairment Sparse hair Hip dysplasia Abnormality of the hand Inguinal hernia Short neck Skeletal dysplasia Hypospadias Prominent nose Wide mouth Myopia Gynecomastia Feeding difficulties in infancy Decreased testicular size Delayed puberty Camptodactyly Osteopenia Osteoporosis Pain Cataract Obesity Patent ductus arteriosus Cleft upper lip Delayed skeletal maturation Cognitive impairment Recurrent urinary tract infections Hypoplasia of the corpus callosum Hypothyroidism Low-set, posteriorly rotated ears Intellectual disability, mild EEG abnormality Apnea Abnormal heart morphology Dermal atrophy Abnormality of digit Long nose Incomprehensible speech Myopathic facies Bilateral talipes equinovarus Overlapping toe Relative macrocephaly Abnormality of the periventricular white matter Abnormal localization of kidney Micropenis Microretrognathia Long eyelashes Broad thumb Broad-based gait Restlessness Narrow nose Median cleft palate Dacryocystitis Large beaked nose Toe clinodactyly Happy demeanor Pes valgus Abnormality of the ureter Overbite Taurodontia Self-mutilation Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Hemiparesis Short columella Thin skin Fine hair Short palpebral fissure Megalocornea Cervical ribs Macrodontia Recurrent ear infections Rib fusion Beaking of vertebral bodies Chronic constipation Thoracic kyphosis Long palpebral fissure Vertebral arch anomaly Vertebral fusion Hyperacusis Mixed hearing impairment Short femoral neck Abnormal tracheobronchial morphology Radial deviation of finger Short long bone Widely-spaced maxillary central incisors Primary amenorrhea Conspicuously happy disposition Short palm Intellectual disability, profound Convex nasal ridge Febrile seizures Nail dysplasia Ectodermal dysplasia Large face Downturned corners of mouth Bulbous nose Wide intermamillary distance Thin vermilion border Arachnodactyly Abnormality of the foot Abnormality of the cerebral white matter Postnatal growth retardation Narrow mouth Hyperhidrosis Delayed eruption of primary teeth Narrow maxilla Respiratory distress Narrow jaw Fibular aplasia Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Intestinal pseudo-obstruction Peripheral neuropathy Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Distal tapering femur Ventriculomegaly Short humerus Open mouth Hand polydactyly Precocious puberty Self-injurious behavior Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Hoarse voice Abnormal form of the vertebral bodies Hypertriglyceridemia Hyporeflexia Decreased fetal movement Microcornea Retinal detachment Toe syndactyly Impaired pain sensation Joint stiffness Pes planus Upslanted palpebral fissure Loss of speech Atonic seizures Chronic otitis media Weight loss Inability to walk Nausea Narrow chest Generalized tonic-clonic seizures Hyperlordosis Polyhydramnios Proptosis Respiratory failure Generalized myoclonic seizures Low anterior hairline Abdominal pain Severe short stature Recurrent respiratory infections Pneumonia Recurrent infections Vomiting Abdominal distention Premature birth Progressive spasticity Abnormality of the outer ear Tibial bowing Spondyloepiphyseal dysplasia Clubbing Elbow dislocation Short metatarsal Hyperkinesis Disproportionate short-limb short stature Joint dislocation Limb undergrowth Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Sinusitis Rhizomelia Encephalocele Lumbar hyperlordosis Hypogonadotrophic hypogonadism Impotence Abnormal vertebral morphology Stridor Abdominal situs inversus Dyslexia Double outlet right ventricle Abnormality of immune system physiology Transposition of the great arteries Hypoplastic left heart Obsessive-compulsive behavior Cellulitis Heterotaxy Laryngomalacia Abnormality of the genitourinary system Glomerulopathy Situs inversus totalis Depressed nasal ridge Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Anomalous pulmonary venous return Interrupted aortic arch Tubulointerstitial nephritis Ataxia Telangiectasia Lymphedema Microphthalmia Conjunctivitis Recurrent skin infections Ectropion Hypertension Bilateral trilobed lungs Total anomalous pulmonary venous return Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Common atrium Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Overweight Corneal erosion Growth hormone deficiency Trigonocephaly Dysarthria Poor eye contact High hypermetropia Dysphasia Open bite Dysphagia Language impairment Patent foramen ovale Abnormality of chromosome segregation Infantile muscular hypotonia Abnormality of the cardiovascular system Neonatal hypotonia Delayed myelination Bifid uvula Hypoplasia of the maxilla Hypermetropia Abnormality of the kidney Echolalia Speech apraxia Varicose veins Predominantly lower limb lymphedema Abnormality of the pinna Hydronephrosis Venous insufficiency Distichiasis Renal duplication Knee pain Fibrosarcoma Abnormality of the pulmonary vasculature Abnormal renal morphology Spinalarachnoid cyst Lipedema Receptive language delay Central sleep apnea Expressive language delay Prominent nasal tip Poor fine motor coordination Hypocholesterolemia Webbed neck Bruising susceptibility Hypoplasia of dental enamel Wormian bones Infantile spasms Short middle phalanx of finger Male hypogonadism Deep philtrum Plagiocephaly Narrow palpebral fissure Finger clinodactyly Sparse scalp hair High anterior hairline Thick lower lip vermilion Small nail Dandy-Walker malformation Decreased serum testosterone level Broad nasal tip Delayed eruption of teeth Short foot Small hand Arachnoid cyst Large forehead Short distal phalanx of finger Telecanthus Low posterior hairline Azoospermia Underdeveloped nasal alae Abnormality of the voice Round face Congenital sensorineural hearing impairment Protruding ear Hypoplasia of the uterus Tics Sparse body hair Syndactyly Kyphosis Secondary amenorrhea Generalized joint laxity Testicular torsion Diaphragmatic eventration Periventricular leukomalacia High, narrow palate Absence of secondary sex characteristics Gait ataxia Pulmonic stenosis Psychosis Increased female libido Muscle weakness Everted lower lip vermilion Abnormality of skin pigmentation Oral cleft Edema Pectus carinatum Anorexia Arrhythmia Hypogonadism Diabetes mellitus Cleft lip Photophobia Proteinuria Abnormality of the liver Paresthesia Pulmonary arterial hypertension Aortic valve stenosis Breast hypoplasia Hypoplasia of the ovary Coarse facial features Retrognathia Kyphoscoliosis Decreased testosterone in males Eunuchoid habitus Female hypogonadism Atrial septal defect Non-obstructive azoospermia Abnormality of body height Intrauterine growth retardation Motor delay Six lumbar vertebrae Subvalvular aortic stenosis Absence of pubertal development Shallow orbits Sandal gap Horseshoe kidney Corticospinal tract hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Microtia, related diseases and genetic alterations Hyperreflexia and Eczema, related diseases and genetic alterations Depressed nasal bridge and Alopecia, related diseases and genetic alterations Skeletal muscle atrophy and Thin vermilion border, related diseases and genetic alterations Cognitive impairment and Osteoarthritis, related diseases and genetic alterations

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