Cleft palate, and Holoprosencephaly

Diseases related with Cleft palate and Holoprosencephaly

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


Top matches:

Low match HOLOPROSENCEPHALY 4; HPE4


A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Related symptoms:

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 4; HPE4

Low match MICROTIA


Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal.

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Microtia
  • Small for gestational age
  • Holoprosencephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROTIA

Low match HOLOPROSENCEPHALY 11; HPE11


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

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Other less relevant matches:

Low match ISOLATED ANENCEPHALY/EXENCEPHALY


Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Low match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


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

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low 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

Low match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Low match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

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

Symptoms // Phenotype % cases
Hypotelorism Common - Between 50% and 80% cases
Oral cleft Common - Between 50% and 80% cases
Cleft lip Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Agenesis of corpus callosum Global developmental delay Depressed nasal bridge Hypertelorism Abnormal facial shape Microcephaly Microphallus Micropenis Alobar holoprosencephaly Hearing impairment High palate Cryptorchidism Depressed nasal tip

Rare Symptoms - Less than 30% cases


Hypogonadism Cleft upper lip Postaxial polydactyly Bilateral cryptorchidism Panhypopituitarism Single median maxillary incisor Polydactyly Ptosis Proboscis Intellectual disability Micrognathia Abnormality of the eye Brachydactyly Wide nasal bridge Abnormality of the skeletal system Broad forehead Macrocephaly Macrotia Upslanted palpebral fissure Microphthalmia Low-set ears Short nose Seizures Absent nasal septal cartilage Growth hormone deficiency Synophrys Omphalocele Talipes equinovarus Semilobar holoprosencephaly Median cleft lip and palate Anteverted nares Median cleft lip Total anosmia Downslanted palpebral fissures Narrow mouth Atrial septal defect Abnormal heart morphology Posteriorly rotated ears Synotia Aglossia Respiratory distress Laryngeal hypoplasia Polyhydramnios Pulmonary hypoplasia Tracheomalacia Abnormality of the outer ear Situs inversus totalis Intestinal malrotation Hypoplasia of the maxilla Microglossia Anal atresia Transposition of the great arteries Conductive hearing impairment Stenosis of the external auditory canal Retrognathia Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Atresia of the external auditory canal Trigonocephaly Intellectual disability, severe Bilateral cleft lip Iris coloboma Highly arched eyebrow Prominent nose Dental malocclusion Flat occiput Partial agenesis of the corpus callosum Bilateral cleft lip and palate Protruding ear Broad face Bilateral microphthalmos Midline defect of the nose Parietal bossing Hypoplasia of the premaxilla Fusion of the left and right thalami Smooth philtrum Thin upper lip vermilion Coloboma Decreased circulating follicle stimulating hormone level Hypermetropia Astigmatism Microcornea Narrow forehead Exotropia Deep philtrum Absent thumb Frontal bossing Abnormality of digit Facial cleft Scaphocephaly Cyclopia Small posterior fossa Exencephaly Epicanthus Leydig cell insensitivity to gonadotropin Abnormality of eye movement Hypothalamic gonadotropin-releasing hormone deficiency Depressed nasal ridge Neural tube defect Short stature Growth delay Pain Delayed skeletal maturation Abdominal pain Diabetes insipidus Calvarial skull defect High pitched voice Hypopituitarism Poor appetite Adrenocorticotropic hormone deficiency Anterior pituitary hypoplasia Bilateral postaxial polydactyly Ectopic posterior pituitary Abnormality of the diaphragm Abnormal lung lobation Malar flattening Polysplenia Microtia Small for gestational age Maternal diabetes Anotia Proptosis Thick eyebrow Abnormality of cardiovascular system morphology Anencephaly Hernia Postaxial hand polydactyly Congenital diaphragmatic hernia Spina bifida Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Primary adrenal insufficiency Ventriculomegaly Syndactyly Olfactory lobe agenesis Anodontia Decreased testicular size Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Anosmia Unilateral renal agenesis Sparse pubic hair Ichthyosis Hyposmia Abnormal renal morphology Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Eunuchoid habitus Decreased circulating luteinizing hormone level Renal agenesis Facial asymmetry Hypospadias Scrotal hypoplasia Deeply set eye Abnormality of the pinna Micromelia Wide intermamillary distance Ambiguous genitalia Sandal gap Aplasia/Hypoplasia of the corpus callosum Adrenal hypoplasia Delayed puberty Barrel-shaped chest Shield chest Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Ataxia Sensorineural hearing impairment Pes cavus Flat nasal alae



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