Cleft palate, and Autism

Diseases related with Cleft palate and Autism

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42


Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Medium match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


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

Medium match MENTAL RETARDATION, X-LINKED 102; MRX102


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

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Other less relevant matches:

Medium match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Medium match SEPTO-OPTIC DYSPLASIA SPECTRUM


Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod|septo-optic dysplasia|de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SEPTO-OPTIC DYSPLASIA SPECTRUM

Medium match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

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

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Autistic behavior Cleft lip Micrognathia Long face Atrial septal defect Cryptorchidism Scoliosis Ventricular septal defect Hyperactivity Failure to thrive Cleft upper lip Strabismus Low-set ears Aggressive behavior High palate Motor delay Intellectual disability, mild Attention deficit hyperactivity disorder Delayed speech and language development Growth delay Nystagmus Intrauterine growth retardation Visual impairment

Rare Symptoms - Less than 30% cases


Hypoplasia of the corpus callosum Behavioral abnormality Ventriculomegaly Spasticity Abnormal facial shape Anemia Long philtrum High forehead Abnormality of the dentition Brachycephaly Hypoplasia of penis Highly arched eyebrow Agenesis of corpus callosum Bifid uvula Hearing impairment Muscular hypotonia Fatigue Obesity Feeding difficulties Myopia Hypospadias Delayed puberty Micropenis EEG abnormality Gait ataxia Retrognathia Open mouth Hypertonia Oral cleft Broad nasal tip Prominent nasal bridge Slender finger Sloping forehead Short philtrum Nasal speech Severe global developmental delay Downturned corners of mouth Full cheeks Round face Poor speech Growth hormone deficiency Lactic acidosis Thick vermilion border Inability to walk Tetraparesis Tapered finger Diabetes mellitus Small for gestational age Reticulocytopenia Short thumb Melanoma Abnormality of the urinary system Abnormality of the hand Triphalangeal thumb Macrocytic anemia Tracheomalacia Acute leukemia Esophagitis Increased mean corpuscular volume Cleft soft palate Fetal distress Muscular hypotonia of the trunk Persistence of hemoglobin F Hyperreflexia Talipes equinovarus Intellectual disability, severe Absent speech Babinski sign Hypogonadism Acidosis Macrotia Difficulty walking Hypoglycemia Lower limb spasticity Flexion contracture Progressive microcephaly Aortic aneurysm Broad thumb Dental crowding Anorexia Hallucinations Narrow face Short chin Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Schizophrenia Deep philtrum Abnormality of the voice Obsessive-compulsive behavior Hypoplasia of the maxilla Emotional lability Disproportionate tall stature Long nose Narrow nasal bridge Aortic root aneurysm Macroorchidism Cat cry Abnormality of the rib cage Impaired social interactions Ascending tubular aorta aneurysm Velopharyngeal insufficiency Low frustration tolerance Psychosis Arachnodactyly Spastic tetraparesis Cognitive impairment Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Oppositional defiant disorder Joint hyperflexibility Brachydactyly Macrocephaly Frontal bossing Dilatation Mitral regurgitation Pectus excavatum Prominent forehead Thin upper lip vermilion Joint laxity Protruding ear Camptodactyly of finger Neurological speech impairment Abnormality of the genital system Dry skin Depressed nasal ridge Increased number of teeth Depressed nasal bridge Epicanthus Conductive hearing impairment Abnormality of the pinna Thick eyebrow Single transverse palmar crease Long eyelashes Brittle hair Flat occiput Bilateral conductive hearing impairment Precocious puberty Kyphosis Immunodeficiency Inguinal hernia Posteriorly rotated ears Deeply set eye Intellectual disability, moderate Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Smooth philtrum Bulbous nose Cortical dysplasia Decreased body weight Convex nasal ridge Synophrys Hydronephrosis Polymicrogyria Delayed myelination Hypsarrhythmia Cerebral visual impairment Limb hypertonia Impaired smooth pursuit Upslanted palpebral fissure Polydactyly Pes planus Decreased testicular size Broad-based gait Low posterior hairline Prominent supraorbital ridges Preaxial polydactyly Large hands Preaxial hand polydactyly Thoracic kyphosis Bilateral cleft lip Bilateral cleft lip and palate Long toe Dyskinesia Everted lower lip vermilion Narrow forehead Thick lower lip vermilion Hypertelorism Tracheoesophageal fistula Hemiplegia/hemiparesis Diabetes insipidus Absent septum pellucidum Esophageal atresia Maternal diabetes Abnormality of the hypothalamus-pituitary axis Anterior pituitary hypoplasia Septo-optic dysplasia Neoplasm Polydipsia Short nose Patent ductus arteriosus Arrhythmia Osteoporosis Pallor Neutropenia Migraine Tetralogy of Fallot Mitral valve prolapse Ventricular hypertrophy Aplasia/Hypoplasia of the cerebellum Optic nerve hypoplasia Pointed chin Accelerated skeletal maturation Tented upper lip vermilion Laryngomalacia Acne Biparietal narrowing Everted upper lip vermilion Cataract Astigmatism Hypotelorism Rhizomelia Coxa valga Scrotal hypoplasia Anosmia Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Broad femoral neck Sensorineural hearing impairment Abnormality of cardiovascular system morphology Constipation Sleep disturbance Hypohidrosis Abnormally folded helix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Talipes equinovarus, related diseases and genetic alterations Abnormality of the skeletal system and Synophrys, related diseases and genetic alterations Dysarthria and Thick eyebrow, related diseases and genetic alterations Wide nasal bridge and Genu valgum, related diseases and genetic alterations Macrocephaly and Neurodegeneration, related diseases and genetic alterations

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