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.


Top matches:

Medium match CLEFT PALATE, ISOLATED; CPI


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

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


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

Medium match HARTSFIELD SYNDROME


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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Other less relevant matches:

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


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

Medium match WALKER-WARBURG SYNDROME


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

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


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

Medium match 2Q32Q33 MICRODELETION SYNDROME


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

Medium match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY 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

Medium match C 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

Medium match FRYNS 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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