Cleft palate, and Intellectual disability, profound
Diseases related with Cleft palate and Intellectual disability, profound
In the following list you will find some of the most common rare diseases related to Cleft palate and Intellectual disability, profound that can help you solving undiagnosed cases.
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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
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2
Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.
HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
Related symptoms:
- Intellectual disability
- Global developmental delay
- Microcephaly
- Growth delay
- Hypertelorism
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about HARTSFIELD SYNDROME
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X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.
X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about WALKER-WARBURG SYNDROME
Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
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
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
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about C SYNDROME
Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.
FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about FRYNS SYNDROME
Top 5 symptoms//phenotypes associated to Cleft palate and Intellectual disability, profound
Symptoms // Phenotype |
% cases |
Intellectual disability |
Very Common - Between 80% and 100% cases
|
Global developmental delay |
Very Common - Between 80% and 100% cases
|
Microcephaly |
Common - Between 50% and 80% cases
|
Generalized hypotonia |
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 Intellectual disability, profound. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Low-set ears
Uncommon Symptoms - Between 30% and 50% cases
Cryptorchidism
Common Symptoms - More than 50% cases
Hypertelorism
Uncommon Symptoms - Between 30% and 50% cases
Cleft lip
Common Symptoms - More than 50% cases
Growth delay
Uncommon Symptoms - Between 30% and 50% cases
Flexion contracture
Agenesis of corpus callosum
Posteriorly rotated ears
Anteverted nares
Micrognathia
Short stature
Wide nasal bridge
Microphthalmia
Cleft upper lip
Long philtrum
Cerebellar hypoplasia
Intellectual disability, severe
Intrauterine growth retardation
Hydrocephalus
Ventriculomegaly
Abnormal facial shape
Muscular hypotonia
High palate
Oral cleft
Ptosis
Depressed nasal bridge
Epicanthus
Strabismus
Clinodactyly
Severe global developmental delay
Hypospadias
Short neck
Low-set, posteriorly rotated ears
Hypoplasia of the brainstem
Wide nose
Dandy-Walker malformation
Macrocephaly
Smooth philtrum
Camptodactyly
Talipes equinovarus
Clinodactyly of the 5th finger
Brachycephaly
Abnormality of the cerebral white matter
Dilatation
Muscular dystrophy
Neonatal hypotonia
Encephalocele
Heterotopia
Scoliosis
Thin vermilion border
Cataract
Aplasia/Hypoplasia of the corpus callosum
Myopia
Non-midline cleft lip
Rare Symptoms - Less than 30% cases
Frontal bossing
Wide intermamillary distance
Hyperpigmentation of the skin
Blindness
Areflexia
Dental crowding
Broad-based gait
Proptosis
Thin upper lip vermilion
Arachnodactyly
Bifid uvula
Generalized myoclonic seizures
Bulbous nose
Corneal opacity
Limb undergrowth
Facial asymmetry
Tetralogy of Fallot
Congenital diaphragmatic hernia
Prominent nasal bridge
Omphalocele
Short philtrum
Multicystic kidney dysplasia
Narrow mouth
Abnormality of the helix
Hydronephrosis
Wide mouth
Anal atresia
Tented upper lip vermilion
Hernia
Abnormality of the dentition
Brachydactyly
Feeding difficulties
Talipes
Osteoporosis
Postnatal growth retardation
High forehead
Upslanted palpebral fissure
Midface retrusion
Microretrognathia
Atrial septal defect
Postaxial polydactyly
Patent ductus arteriosus
Coarctation of aorta
Ventricular septal defect
Malar flattening
Abnormality of cardiovascular system morphology
Short nose
Polyhydramnios
Retinal dysplasia
Bilateral cleft lip
Anophthalmia
Broad forehead
Renal dysplasia
Renal cyst
Bifid scrotum
Myoclonus
Congenital glaucoma
Severe muscular hypotonia
Elevated serum creatine phosphokinase
Lissencephaly
Respiratory insufficiency
Congenital contracture
Congenital muscular dystrophy
Muscle weakness
Micropenis
Absent septum pellucidum
Cleft soft palate
Abnormality of digit
Abnormality of the periventricular white matter
Glaucoma
Retinal atrophy
Ectodermal dysplasia
Craniosynostosis
Protruding ear
Buphthalmos
Gingival overgrowth
Peters anomaly
Cerebellar dysplasia
Type II lissencephaly
Cerebellar cyst
Downslanted palpebral fissures
Syndactyly
Megalocornea
Overbite
Cerebellar vermis hypoplasia
Hypermetropia
Absent speech
Pachygyria
Congenital cataract
Delayed speech and language development
Long hallux
Pectus excavatum
Polymicrogyria
Dacryocystitis
Postaxial foot polydactyly
Anal stenosis
Ulnar deviation of finger
Congestive heart failure
Incomprehensible speech
Abnormality of immune system physiology
Dislocated radial head
Biparietal narrowing
Multiple joint contractures
Radial deviation of finger
Narrow maxilla
Abnormal hair pattern
Aplasia/Hypoplasia of the abdominal wall musculature
Large beaked nose
Female pseudohermaphroditism
Excessive salivation
Renal cortical cysts
Conotruncal defect
Pseudohypoaldosteronism
Pes valgus
Happy demeanor
Toe clinodactyly
Trigonocephaly
Metopic synostosis
Abnormality of the anus
Accessory oral frenulum
Median cleft palate
Broad alveolar ridges
Medulloblastoma
Clitoral hypertrophy
Renal hypoplasia/aplasia
Hand polydactyly
Autistic behavior
Delayed skeletal maturation
Constipation
Polydactyly
Hepatomegaly
Hypertension
Motor delay
Hip dislocation
Toe syndactyly
Failure to thrive
Micromelia
Hirsutism
Visual impairment
Limitation of joint mobility
Short metacarpal
Anterior open-bite malocclusion
Failure to thrive in infancy
Postaxial hand polydactyly
Macroglossia
Narrow jaw
Abnormality of the genital system
Bilateral single transverse palmar creases
Horseshoe kidney
Conspicuously happy disposition
Facial cleft
Joint dislocation
Short chin
Cutis laxa
Sacral dimple
Abnormal heart morphology
Redundant skin
Hypoplasia of the ear cartilage
Abnormality of the skeletal system
Right-to-left shunt
Abnormality of finger
Aplasia/Hypoplasia of the nipples
Ovarian cyst
Bicornuate uterus
Broad ribs
Hypoplastic fingernail
Duodenal atresia
Ectopic anus
Asplenia
Bilateral cleft lip and palate
Bifid nose
Polysplenia
Truncus arteriosus
Thickened nuchal skin fold
Broad neck
Median cleft lip
Overweight
Esophageal atresia
Shawl scrotum
Oligodactyly
Cystic renal dysplasia
Ureteral duplication
Hypoplastic nipples
Abnormality of the diaphragm
Ectopic pancreatic tissue
Absent left hemidiaphragm
Postaxial oligodactyly
Hypoplasia of olfactory tract
Facial hirsutism
Abnormal aortic arch morphology
Broad clavicles
Urethral stricture
Bilateral choanal atresia
Prominent fingertip pads
Interrupted aortic arch
Gastroparesis
Meckel diverticulum
Shortening of all distal phalanges of the fingers
Gastroschisis
Arrhinencephaly
Aplasia cutis congenita of scalp
Chylothorax
Abnormal aortic morphology
Absent nipple
Atrophy/Degeneration affecting the brainstem
Thin ribs
Midline facial capillary hemangioma
Abnormality of the eye
Intestinal malrotation
Vesicoureteral reflux
Gliosis
Single transverse palmar crease
Short distal phalanx of finger
Pulmonary hypoplasia
Narrow chest
Abnormal cardiac septum morphology
Blepharophimosis
Abnormality of the nervous system
Renal agenesis
Coarse facial features
Retrognathia
Gastroesophageal reflux
Cerebral cortical atrophy
Edema
Respiratory distress
Conical tooth
Fused sternal ossification centers
Thick anterior alveolar ridges
Premature birth
Small nail
Cystic hygroma
Abnormality of the genitourinary system
Partial agenesis of the corpus callosum
Hypoplasia of the uterus
Thoracic hypoplasia
Hydroureter
Anonychia
Large for gestational age
Rocker bottom foot
Proximal placement of thumb
Pterygium
Abnormality of the outer ear
Depressed nasal ridge
Narrow palpebral fissure
Opacification of the corneal stroma
Finger clinodactyly
Joint contracture of the hand
Short thumb
Amblyopia
Abnormality of the face
Aganglionic megacolon
Choanal atresia
Generalized osteoporosis
Drooling
Broad hallux phalanx
Coloboma
Retinal detachment
Retinal dystrophy
Iris coloboma
Split hand
Holoprosencephaly
Microtia
Retinopathy
Cutaneous syndactyly
Hypotelorism
Poor head control
Hyporeflexia
Diabetes insipidus
Myopathy
Hypoplasia of the corpus callosum
Optic atrophy
Ectrodactyly
Skeletal muscle atrophy
Microcornea
Specific learning disability
Long palm
Muscle fiber splitting
Abnormality of the cerebellar vermis
Abnormal levels of creatine kinase in blood
Hypoglycosylation of alpha-dystroglycan
Meningoencephalocele
Posterior fossa cyst
Remnants of the hyaloid vascular system
Excessive daytime sleepiness
Agyria
Aqueductal stenosis
Hypoplasia of penis
Abnormality of the optic nerve
Abnormal cortical gyration
Telecanthus
Submucous cleft hard palate
Occipital encephalocele
Abnormality of neuronal migration
Atresia of the external auditory canal
Optic nerve hypoplasia
Asymmetry of the ears
Focal motor seizures
Severe hydrocephalus
Synophrys
High, narrow palate
Hypernatremia
Unsteady gait
Duplication of thumb phalanx
Hypoplasia of the frontal bone
Abnormality of movement
Lobar holoprosencephaly
Cognitive impairment
Postural instability
Pectus carinatum
Abnormality of the pinna
Dysarthria
Intellectual disability, moderate
Difficulty walking
Kyphoscoliosis
Mandibular prognathia
Gait disturbance
Recurrent fractures
Semilobar holoprosencephaly
Narrow palm
Sparse eyebrow
Small earlobe
Hyperextensibility of the finger joints
Slender build
Epileptic spasms
Slender finger
Long fingers
Disproportionate tall stature
Decreased muscle mass
Nasal speech
Webbed neck
Spontaneous abortion
Narrow face
Aplasia/Hypoplasia of the radius
Tall stature
Gonadotropin deficiency
Thick lower lip vermilion
High myopia
Central diabetes insipidus
Metatarsus valgus
Macrogyria
Short columella
Poor speech
Prominent nose
Sleep disturbance
Downturned corners of mouth
Short palm
Thick eyebrow
Long face
Joint hyperflexibility
Abnormality of the foot
Nail dysplasia
Attention deficit hyperactivity disorder
Sparse hair
Joint laxity
Aggressive behavior
Anxiety
Osteopenia
Autism
Hyperactivity
Dental malocclusion
Febrile seizures
Skeletal muscle hypertrophy
Dermal atrophy
Self-mutilation
Narrow nose
Restlessness
Long nose
Myopathic facies
Bilateral talipes equinovarus
Overlapping toe
Abnormality of dental morphology
Relative macrocephaly
Convex nasal ridge
Oligodontia
Long eyelashes
Broad thumb
Thin skin
Hemiparesis
Short palpebral fissure
Fine hair
Decreased testicular size
Hyperhidrosis
Inguinal hernia
Abnormal lactate dehydrogenase activity
Moderate myopia
Ambiguous genitalia
Oligohydramnios
Amenorrhea
Generalized tonic-clonic seizures
Leukemia
Small for gestational age
Feeding difficulties in infancy
Persistent pupillary membrane
Immunodeficiency
Sarcoma
Hypogonadism
Neoplasm
Nystagmus
Abnormal aldolase level
Thick cerebral cortex
Aplasia/Hypoplasia involving the skeletal musculature
Hypoplastic male external genitalia
Chorioretinal dysplasia
Primary amenorrhea
Myelodysplasia
Behavioral abnormality
Triangular mouth
Spinal rigidity
Hyperreflexia
Spasticity
Hypoplasia of the pons
Hypodysplasia of the corpus callosum
Embryonal rhabdomyosarcoma
Premature chromatid separation
Cerebral hypoplasia
Rhabdomyosarcoma
Limb-girdle muscular dystrophy
Short sternum
Mild microcephaly
Acute leukemia
Multiple renal cysts
Severe intrauterine growth retardation
Acute lymphoblastic leukemia
Combined immunodeficiency
Nephroblastoma
Hypoplasia of the optic tract
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