Cleft palate, and Growth hormone deficiency

Diseases related with Cleft palate and Growth hormone deficiency

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

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

Other less relevant matches:

Medium match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Medium match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO 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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

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

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Top 5 symptoms//phenotypes associated to Cleft palate and Growth hormone deficiency

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
Micropenis Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cleft palate and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Panhypopituitarism Cleft upper lip Depressed nasal bridge Growth delay Hypogonadism Seizures Holoprosencephaly Hypotelorism Intellectual disability Oral cleft Semilobar holoprosencephaly Anteverted nares Agenesis of corpus callosum Short nose Strabismus Small for gestational age Intrauterine growth retardation Hearing impairment Depressed nasal ridge Polydactyly Short philtrum Delayed skeletal maturation Midface retrusion Microtia Frontal bossing

Rare Symptoms - Less than 30% cases

Abnormal facial shape Muscular hypotonia Conductive hearing impairment Macrocephaly Depressed nasal tip Hypospadias Delayed speech and language development Hydronephrosis Respiratory tract infection Malar flattening Renal agenesis Abnormality of the genital system Bilateral cleft lip Median cleft lip Ectodermal dysplasia Anophthalmia Hypoplasia of penis Broad nasal tip Thick vermilion border Delayed puberty Microphthalmia Macrotia Sloping forehead Pulmonary hypoplasia Scoliosis Photophobia Diabetes mellitus Nystagmus Micrognathia Conjunctivitis Pain Postaxial polydactyly Bilateral cryptorchidism Abnormality of the nasopharynx Hypopituitarism Single naris Anterior pituitary hypoplasia Single median maxillary incisor Generalized hypotonia Hypertelorism Ectopic posterior pituitary Hypoplasia of the maxilla Ptosis Posteriorly rotated ears Recurrent infections Severe short stature Recurrent respiratory infections Choanal atresia Hypothyroidism Obesity Nasogastric tube feeding Ambiguous genitalia Hamartoma Narrow nasal bridge Tracheobronchomalacia Specific learning disability Precocious puberty Premature birth Intellectual disability, mild Coloboma Iris coloboma Hemangioma Anosmia Asthma Tetralogy of Fallot EMG: myopathic abnormalities Tented upper lip vermilion Single transverse palmar crease Subglottic stenosis Spinalarachnoid cyst Hernia Downslanted palpebral fissures Motor delay Feeding difficulties Failure to thrive Lipedema Abnormality of the pulmonary vasculature High forehead Predominantly lower limb lymphedema Fibrosarcoma Knee pain Renal duplication Distichiasis Venous insufficiency Gastroesophageal reflux Umbilical hernia Bronchomalacia Emphysema Entropion Patellar aplasia Hypoplastic labia majora Stenosis of the external auditory canal Tracheomalacia Cortical gyral simplification Short middle phalanx of finger Hyperlordosis Laryngomalacia Sandal gap Microretrognathia Lumbar hyperlordosis Hip dysplasia Underdeveloped nasal alae Delayed myelination Maternal diabetes Anal atresia Duodenal atresia Xerostomia Generalized hypopigmentation Anodontia Fair hair Blue irides Split foot Blepharitis Hypoplastic nipples Heat intolerance Ectrodactyly Absent septum pellucidum Hydroureter Epiphora Keratitis Hand polydactyly Sparse axillary hair Dysuria Abnormality of the urinary system Nail pits Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Ureterocele Duplicated collecting system Rectovaginal fistula Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Preaxial polydactyly Abnormality of the genitourinary system Abnormality of chromosome segregation Fever Telecanthus Hyperkeratosis Alopecia Inguinal hernia Immunodeficiency Syndactyly Midnasal stenosis Carious teeth Pyriform aperture stenosis Prominent median palatal raphe Torus palatinus Hypothalamic hamartoma Cyclopia Nasal obstruction Hyposmia Blepharophimosis Toe syndactyly Oligodontia Thin skin Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Hypohidrosis Renal dysplasia Omphalocele Split hand Abnormality of the foot Sparse scalp hair Oligohydramnios Microdontia Nail dysplasia Vesicoureteral reflux Hypodontia Corneal erosion Varicose veins Lower limb spasticity Tubulointerstitial nephritis Preauricular skin tag Epiphyseal dysplasia Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Ventricular septal defect Respiratory distress Hydrocephalus Pulmonic stenosis Dental malocclusion Postaxial hand polydactyly Coarctation of aorta Hemivertebrae Hypercalciuria Large forehead Hypoplasia of the premaxilla Thoracic hemivertebrae Alobar holoprosencephaly Prominent antihelix Wide cranial sutures Median cleft lip and palate Abnormal cortical gyration Optic nerve hypoplasia Bilateral cleft lip and palate Skin tags Partial agenesis of the corpus callosum Neurodevelopmental delay Heart murmur Patent foramen ovale Hypercalcemia Short long bone Short hard palate Oculomotor apraxia Proptosis Synophrys Thick eyebrow Polysplenia Abdominal pain Diabetes insipidus High pitched voice Poor appetite Adrenocorticotropic hormone deficiency Microphallus Bilateral postaxial polydactyly Ataxia Cerebellar hypoplasia Apraxia Tachypnea Nephrocalcinosis Prominent forehead Hypocalcemia Bilateral sensorineural hearing impairment Micromelia Muscular dystrophy Craniosynostosis Postnatal growth retardation Low-set ears Cone/cone-rod dystrophy Sensorineural hearing impairment Inferior vermis hypoplasia Central hypothyroidism Molar tooth sign on MRI Bilateral ptosis Recurrent upper respiratory tract infections Underdeveloped tragus Anterior pituitary agenesis Overweight Abnormality of cardiovascular system morphology Spastic tetraparesis Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Muscle weakness Cataract Edema Patent ductus arteriosus Open mouth Telangiectasia Glomerulopathy Cellulitis Ectropion Recurrent skin infections Gynecomastia Lymphedema Recurrent urinary tract infections Arrhythmia Webbed neck Bruising susceptibility Paresthesia Abnormality of the liver Proteinuria Anxiety Progressive microcephaly Tetraparesis Agenesis of incisor Gait ataxia Asymmetric ventricles Diastolic heart murmur Spasticity Hyperreflexia Myopia Talipes equinovarus Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Hypertonia Long philtrum Absent speech Babinski sign Hyperactivity Autism Round face Poor speech Full cheeks Tapered finger Downturned corners of mouth Inability to walk Long face Lactic acidosis Severe global developmental delay Acidosis Attention deficit hyperactivity disorder Muscular hypotonia of the trunk Aggressive behavior Hypoglycemia EEG abnormality Difficulty walking Slow-growing scalp hair


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