Cleft palate, and Tapered finger
Diseases related with Cleft palate and Tapered finger
In the following list you will find some of the most common rare diseases related to Cleft palate and Tapered finger that can help you solving undiagnosed cases.
Top matches:
Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2
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
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Micrognathia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CLEIDOCRANIAL DYSPLASIA
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
- Abnormal facial shape
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2
Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).
HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME
Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion
Related symptoms:
- Intellectual disability
- Global developmental delay
- Microcephaly
- Ataxia
- Failure to thrive
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about 3Q29 MICRODELETION SYNDROME
Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about COFFIN-SIRIS SYNDROME 6; CSS6
Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).
X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY
Top 5 symptoms//phenotypes associated to Cleft palate and Tapered finger
Symptoms // Phenotype |
% cases |
Global developmental delay |
Very Common - Between 80% and 100% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Generalized hypotonia |
Common - Between 50% and 80% cases
|
Abnormal facial shape |
Common - Between 50% and 80% cases
|
Microcephaly |
Common - Between 50% and 80% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Cleft palate and Tapered finger. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Hypertelorism
Uncommon Symptoms - Between 30% and 50% cases
Short stature
Common Symptoms - More than 50% cases
Posteriorly rotated ears
Uncommon Symptoms - Between 30% and 50% cases
Seizures
Common Symptoms - More than 50% cases
Hearing impairment
Uncommon Symptoms - Between 30% and 50% cases
Downslanted palpebral fissures
Midface retrusion
Hypoplasia of the corpus callosum
Thin upper lip vermilion
Clinodactyly
Delayed speech and language development
Low-set ears
Micrognathia
Wide nasal bridge
Sparse scalp hair
Short nose
Single transverse palmar crease
Macrocephaly
High palate
Talipes equinovarus
Atrial septal defect
Muscular hypotonia
Growth delay
Short philtrum
Depressed nasal bridge
Epicanthus
Hypospadias
Intellectual disability, severe
Coarse facial features
Hyperactivity
Macrotia
Aggressive behavior
Cleft lip
Attention deficit hyperactivity disorder
Severe global developmental delay
Short neck
Broad nasal tip
Thick vermilion border
Absent speech
Sloping forehead
Cryptorchidism
Small hand
Recurrent respiratory infections
Clinodactyly of the 5th finger
Abnormality of the dentition
Frontal bossing
Scoliosis
Joint laxity
Small nail
Long philtrum
Failure to thrive
Plagiocephaly
Wide intermamillary distance
Hernia
Hydronephrosis
Constipation
Patent ductus arteriosus
Low-set, posteriorly rotated ears
Ventriculomegaly
Pectus excavatum
Rare Symptoms - Less than 30% cases
Deep philtrum
Respiratory distress
Feeding difficulties
Prominent forehead
Short foot
Hip dysplasia
Dandy-Walker malformation
Wormian bones
High, narrow palate
Delayed eruption of teeth
Cataract
Oral cleft
Mandibular prognathia
Brachycephaly
Short distal phalanx of finger
Highly arched eyebrow
Tented upper lip vermilion
Anxiety
Anal atresia
Bulbous nose
Anteverted nares
Stereotypy
Ventricular septal defect
Pulmonary arterial hypertension
Broad thumb
Aganglionic megacolon
Gastroesophageal reflux
Prominent nasal bridge
Cerebellar hypoplasia
Abnormality of the genitourinary system
Facial asymmetry
Prominent nose
Wide mouth
Respiratory tract infection
Pulmonic stenosis
Sparse hair
Pneumonia
Sensorineural hearing impairment
Inguinal hernia
Pectus carinatum
Hypertension
Everted lower lip vermilion
Brachydactyly
Strabismus
Myopia
Obesity
Short palpebral fissure
Carious teeth
Micropenis
Downturned corners of mouth
Inability to walk
Long face
Gait ataxia
Upslanted palpebral fissure
Progressive microcephaly
Microphthalmia
Autism
Motor delay
Small for gestational age
Behavioral abnormality
Long fingers
Depressivity
Unilateral renal agenesis
Iron deficiency anemia
Failure to thrive in infancy
Intellectual disability, moderate
Cutis laxa
Leukopenia
Recurrent bacterial infections
Lymphopenia
Bronchiectasis
Mitral regurgitation
Joint hyperflexibility
Abnormality of skin pigmentation
Renal agenesis
Abnormality of lipid metabolism
Varicose veins
Gait disturbance
Bifid scrotum
Hypoplasia of the maxilla
Specific learning disability
Optic disc pallor
Blue sclerae
Pachygyria
Long eyelashes
Sparse and thin eyebrow
Pointed chin
Oligodontia
Neonatal sepsis
Intermittent thrombocytopenia
Sparse eyebrow
Hypoplasia of the brainstem
Premature loss of teeth
Megalocornea
Corneal erosion
Corneal ulceration
Ataxia
Monocytosis
Erythroid hypoplasia
Congenital neutropenia
Cognitive impairment
Giant platelets
Hypoplasia of the thymus
Prominent superficial veins
Asthma
Psychosis
Hepatosplenomegaly
Dental crowding
Testicular torsion
Finger clinodactyly
Narrow palpebral fissure
Abnormality of the hand
Short middle phalanx of finger
Infantile spasms
Arachnoid cyst
High anterior hairline
Large forehead
Lower limb asymmetry
Tics
Periventricular leukomalacia
Diaphragmatic eventration
Abnormal cortical gyration
Flared nostrils
Sacral dimple
Renal dysplasia
Pes cavus
Polydactyly
Hip dislocation
Choanal atresia
Hypertrichosis
Hypotelorism
Smooth philtrum
Narrow forehead
Bifid uvula
Postaxial polydactyly
Thick lower lip vermilion
Abnormality of thyroid physiology
Sepsis
Narrow face
Neutropenia
Astigmatism
Anorexia
Thrombocytopenia
Recurrent infections
Kyphosis
Splenomegaly
Respiratory insufficiency
Hepatomegaly
Anemia
Aortic valve stenosis
Aspiration
Horseshoe kidney
Conductive hearing impairment
Sandal gap
Nasal speech
Bipolar affective disorder
Shallow orbits
Broad face
Subvalvular aortic stenosis
Six lumbar vertebrae
Muscle weakness
Intrauterine growth retardation
Unilateral breast hypoplasia
High forehead
Kyphoscoliosis
Retrognathia
Hypermetropia
Scaphocephaly
Iris coloboma
Birth length less than 3rd percentile
Tetraparesis
Open mouth
Lower limb spasticity
Spastic tetraparesis
Pancreatitis
Widely spaced teeth
Drooling
Agitation
External genital hypoplasia
Depressed nasal tip
Large earlobe
Male hypogonadism
Abdominal obesity
Tall chin
Growth hormone deficiency
Osteoporosis
Skeletal dysplasia
Broad forehead
Narrow chest
Genu valgum
Recurrent fractures
Abnormality of the ribs
Large fontanelles
Abnormality of epiphysis morphology
Sinusitis
Hemivertebrae
Abnormality of dental enamel
Coxa vara
Spina bifida occulta
Hypoplasia of penis
Round face
Abnormality of the metacarpal bones
Ureterocele
Narrow mouth
Osteopenia
Pes planus
Abnormality of the pinna
Blepharophimosis
Microtia
Flat face
Short palm
Microcornea
Microdontia
Scrotal hypoplasia
Overfolded helix
Broad neck
Nystagmus
Full cheeks
Spasticity
Hyperreflexia
Hypertonia
Babinski sign
Hypogonadism
Diabetes mellitus
Acidosis
Difficulty walking
EEG abnormality
Hypoglycemia
Muscular hypotonia of the trunk
Delayed puberty
Poor speech
Lactic acidosis
Sleep apnea
Abnormality of pelvic girdle bone morphology
Thick eyebrow
Long palpebral fissure
Abnormality of the rib cage
U-Shaped upper lip vermilion
Facial capillary hemangioma
Hydrocephalus
Malar flattening
Abnormality of the nervous system
Autistic behavior
Abnormality of the liver
Cleft upper lip
Short toe
Infantile muscular hypotonia
Elevated alkaline phosphatase
Cupped ear
Anteriorly placed anus
Hyperactive deep tendon reflexes
Abnormally large globe
Thickened helices
Profound global developmental delay
Delayed ossification of carpal bones
Shortening of all distal phalanges of the fingers
Ptosis
Telecanthus
Camptodactyly
Protruding ear
Craniosynostosis
Coloboma
Finger syndactyly
Synophrys
Polymicrogyria
Thickened nuchal skin fold
Broad palm
Chronic otitis media
Dimple chin
Open bite
Increased number of teeth
Short clavicles
Sprengel anomaly
Glossoptosis
Hearing abnormality
Hypoplasia of the zygomatic bone
Down-sloping shoulders
Hypoplastic scapulae
Decreased skull ossification
Dystrophic toenail
Dystrophic fingernails
Abnormality of the thumb
Abnormal sacrum morphology
Short finger
Cervical C2/C3 vertebral fusion
Rib segmentation abnormalities
Hypoplastic inferior ilia
Shoulder muscle hypoplasia
Short face
Cervical segmentation defect
Neck muscle hypoplasia
Dolichocephaly
Wide nose
Congenital hip dislocation
Multicystic kidney dysplasia
Intellectual disability, progressive
Recurrent upper respiratory tract infections
Radial deviation of finger
Cor triatriatum
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Rod-cone dystrophy and Growth hormone deficiency, related diseases and genetic alterations
Skeletal muscle atrophy and Cyanosis, related diseases and genetic alterations
Cardiomyopathy and Sinusitis, related diseases and genetic alterations
Cognitive impairment and Paresthesia, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more