Intellectual disability, and Cleft upper lip

Diseases related with Intellectual disability and Cleft upper lip

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

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see {119570}.

CLEFT PALATE, ISOLATED; CPI Is also known as cp|cleft palate

Related symptoms:

  • Seizures
  • Micrognathia
  • Cleft palate
  • Cleft lip
  • Oral cleft


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEFT PALATE, ISOLATED; CPI

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Other less relevant matches:

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 102; MRX102

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

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

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Top 5 symptoms//phenotypes associated to Intellectual disability and Cleft upper lip

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Cleft upper lip. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Oral cleft Generalized hypotonia Hypertelorism Agenesis of corpus callosum Microphthalmia Cataract Hearing impairment Bilateral cleft lip Bilateral cleft lip and palate Strabismus Autistic behavior Hypotelorism

Rare Symptoms - Less than 30% cases

Smooth philtrum Delayed speech and language development Absent nasal septal cartilage Single median maxillary incisor Frontal bossing Median cleft lip and palate Polydactyly Holoprosencephaly Bifid uvula Median cleft lip Intellectual disability, mild Midface retrusion Upslanted palpebral fissure Short nose Autism Synophrys Slender finger Abnormal facial shape Hypoplasia of the corpus callosum Anteverted nares Macrocephaly Hyperactivity Wide nasal bridge Nystagmus Atrial septal defect Sensorineural hearing impairment Ptosis Iris coloboma Short stature Visual impairment Coloboma Cryptorchidism Hydrocephalus Thin vermilion border Hypermetropia Macrotia Patent ductus arteriosus Abnormality of the dentition Epicanthus Thin upper lip vermilion Protruding ear Broad forehead Highly arched eyebrow Prominent nose Dental malocclusion Brachydactyly Posterior embryotoxon High palate Small for gestational age Dystonia Kyphosis Immunodeficiency High forehead Kyphoscoliosis Mental deterioration Micromelia Externally rotated hips Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Omphalocele Broad face Flat occiput Constipation Aplasia of the nose Hypoplastic philtrum Proboscis Single ventricle Cyclopia Chronic constipation Adrenal hypoplasia Submucous cleft hard palate Narrow nasal bridge Diabetes insipidus Exotropia Microcornea Astigmatism Cerebellar hypoplasia Malar flattening Partial agenesis of the corpus callosum Low-set ears Muscular hypotonia Flat nasal alae Fusion of the left and right thalami Hypoplasia of the premaxilla Alobar holoprosencephaly Semilobar holoprosencephaly Parietal bossing Midline defect of the nose Feeding difficulties Bilateral microphthalmos Panhypopituitarism Abnormality of the skeletal system Depressed nasal tip Blindness Unilateral cleft lip Dysphagia Preaxial polydactyly Broad nasal tip Decreased testicular size Sloping forehead Low posterior hairline Nasal speech Prominent supraorbital ridges Large hands Overbite Preaxial hand polydactyly Cleft soft palate Thoracic kyphosis Long toe Facial cleft Spasticity Long face Pes planus Non-midline cleft lip Glaucoma Retinal detachment Neural tube defect Hematuria Corneal opacity Ventricular septal defect Abnormal heart morphology Postaxial polydactyly Anterior open-bite malocclusion Optic atrophy Postaxial hand polydactyly Aganglionic megacolon Horseshoe kidney Postaxial foot polydactyly Lobulated tongue Ventriculomegaly Behavioral abnormality Horizontal eyebrow Low anterior hairline Downturned corners of mouth Round face Febrile seizures Coarctation of aorta Postnatal microcephaly Progressive microcephaly Severe muscular hypotonia Abnormality of the cerebral white matter Truncal obesity Overweight Mild microcephaly Bruxism Chorioretinal coloboma Abnormality of the cerebellar vermis Micrognathia Short philtrum Gingival overgrowth Growth delay Aggressive behavior Dyskinesia Broad-based gait Decreased body weight Precocious puberty Cortical dysplasia Motor delay Developmental regression Intellectual disability, profound Short neck Intellectual disability, severe Obesity Brachycephaly Neonatal hypotonia Anterior pituitary agenesis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hip dislocation, related diseases and genetic alterations Optic atrophy and Epileptic encephalopathy, related diseases and genetic alterations Macrocephaly and Progressive neurologic deterioration, related diseases and genetic alterations Brachydactyly and Frontal bossing, related diseases and genetic alterations Hydrocephalus and Schizophrenia, related diseases and genetic alterations Cryptorchidism and Hirsutism, related diseases and genetic alterations