Cleft palate, and Hypothyroidism

Diseases related with Cleft palate and Hypothyroidism

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


Top matches:

Low match BAMFORTH-LAZARUS SYNDROME


Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome|athyroidal hypothyroidism-spiky hair-cleft palate syndrome|bamforth-lazarus syndrome|hypothyroidism-cleft palate syndrome

Related symptoms:

  • Intellectual disability
  • Cleft palate
  • Hypothyroidism
  • Polyhydramnios
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BAMFORTH-LAZARUS SYNDROME

Low match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

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Other less relevant matches:

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Low match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE


Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Low match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Low 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

Low match CENANI-LENZ 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

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

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

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Seizures Global developmental delay Frontal bossing Downslanted palpebral fissures Ectropion Bifid uvula Intellectual disability, mild Microcephaly Retrognathia Scoliosis Posteriorly rotated ears Growth delay Choanal atresia Thyroid agenesis Generalized hypotonia Agenesis of corpus callosum Nystagmus

Rare Symptoms - Less than 30% cases


Renal agenesis Anal atresia Reduced number of teeth Cleft upper lip Finger syndactyly Conical tooth Flat face Distichiasis Syndactyly Ectropion of lower eyelids High forehead Hypodontia Hypoplasia of the maxilla Euryblepharon Low-set ears Short philtrum Short nose Strabismus Abnormality of chromosome segregation Specific learning disability Severe short stature Feeding difficulties Muscular hypotonia Cataract Failure to thrive Hearing impairment Anophthalmia Coloboma Microphthalmia Myopia Cryptorchidism Abnormality of the dentition Ectodermal dysplasia Anteverted nares Abnormal hair quantity Prominent forehead Ptosis Micropenis Ectopic posterior pituitary Growth hormone deficiency Congenital hypothyroidism Panhypopituitarism Polyhydramnios Central hypothyroidism Dysphagia Abnormality of the kidney Midnasal stenosis Apnea Synostosis of carpal bones Cognitive impairment High palate Delayed speech and language development Epicanthus Dysarthria Wide nasal bridge Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Oligodactyly Abnormal heart morphology Hyperactivity Abnormality of digit Mandibular prognathia Gastroesophageal reflux EEG abnormality Neonatal hypotonia Absent thumb Anxiety Low-set, posteriorly rotated ears Autism Abnormality of the ribs Absent toenail Duodenal atresia Ambiguous genitalia Hypoplasia of penis Synostosis of joints Depressed nasal ridge Holoprosencephaly Hemangioma EMG: myopathic abnormalities Anosmia Tented upper lip vermilion Precocious puberty Narrow nasal bridge Hamartoma Median cleft lip Maternal diabetes Crossed fused renal ectopia Absent fingernail Hyposmia Nasal obstruction Bilateral renal hypoplasia Single median maxillary incisor Abnormality of the nasopharynx Cyclopia Semilobar holoprosencephaly Hypothalamic hamartoma Foot oligodactyly Torus palatinus Single naris Prominent median palatal raphe Pyriform aperture stenosis Feeding difficulties in infancy Mixed hearing impairment Attention deficit hyperactivity disorder Autistic behavior Poor fine motor coordination Dysphasia High hypermetropia Congenital hip dislocation Poor eye contact Short thumb Abnormality of the genital system Bipolar affective disorder Abnormal form of the vertebral bodies Renal hypoplasia Echolalia Speech apraxia Abnormal renal morphology Hypocholesterolemia Abnormality of the pharynx Prominent nasal tip Hemivertebrae Expressive language delay Central sleep apnea Receptive language delay Depressed nasal bridge Malar flattening Proptosis Deeply set eye Protruding ear Prominent nasal bridge Hip dislocation Congenital cataract Toe syndactyly Micromelia High, narrow palate Open bite Abnormality of dental morphology Wide mouth Abnormality of the cardiovascular system Convex nasal ridge Hypoplasia of the ulna Elbow dislocation Broad forehead Radioulnar synostosis Small for gestational age Systemic lupus erythematosus Hypermetropia Smooth philtrum Triangular face Deep philtrum Hypoplasia of the radius Delayed myelination Dental malocclusion Dental crowding Narrow palate Stereotypy Hypercholesterolemia Sleep apnea Laryngomalacia Abnormality of the metacarpal bones Infantile muscular hypotonia Patent foramen ovale Failure to thrive in infancy Trigonocephaly Language impairment Renal hypoplasia/aplasia Abnormal dermatoglyphics Oral-pharyngeal dysphagia Abnormality of dental enamel Hypotelorism Patent ductus arteriosus Tetralogy of Fallot Increased muscle glycogen content Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Cerebral venous thrombosis Cardiac arrest Type II transferrin isoform profile Abnormal protein glycosylation Neoplasm Blindness Clinodactyly Upslanted palpebral fissure Conductive hearing impairment Abnormality of the eye Sparse hair Carious teeth Oral cleft Small nail Opacification of the corneal stroma Cutaneous syndactyly Hypogonadotrophic hypogonadism Hepatitis Abnormality of vision Inferior vermis hypoplasia Curly hair Bilateral choanal atresia Bifid epiglottis Ataxia Recurrent infections Cerebellar hypoplasia Apraxia Oculomotor apraxia Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Molar tooth sign on MRI Muscle weakness Chest pain Fever Fatigue Cardiomyopathy Elevated serum creatine phosphokinase Hypogonadism Dyspnea Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Delayed puberty Tachycardia Hepatic steatosis Muscle cramps Oligodontia Overfolded helix Premature birth Short palpebral fissure Proboscis Aglossia Myopic astigmatism Ventricular septal defect Atrial septal defect Clinodactyly of the 5th finger Recurrent respiratory infections Blepharophimosis Camptodactyly of finger Joint hyperflexibility Bulbous nose Prominent nose Sloping forehead Bilateral single transverse palmar creases Mandibular aplasia Prominent occiput Long nose Atrioventricular canal defect Submucous cleft hard palate Abnormality of the antihelix Abnormal nasolacrimal system morphology Thyroid hypoplasia Ectopic thyroid Thyroid dysgenesis Neoplasm of the tongue Abnormality of the cheek Intrauterine growth retardation Iris coloboma Asthma Macular scar Retinal dysplasia Vertebral fusion Intellectual disability, severe Bilateral cleft lip Abnormal eyelid morphology Myelomeningocele Bilateral cleft lip and palate High anterior hairline Unilateral cleft lip Epidermoid cyst Meningoencephalocele Dermoid cyst Multiple rows of eyelashes Talipes equinovarus Respiratory insufficiency Respiratory distress Narrow mouth Hypoplasia of the fovea Photophobia Joint laxity Scarring Retinopathy Astigmatism Retinal dystrophy Microcornea Pigmentary retinopathy Microretrognathia Arnold-Chiari malformation Optic nerve hypoplasia Short middle phalanx of finger Posterior embryotoxon Microglossia Facial asymmetry



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