Cleft palate, and Coarse facial features
Diseases related with Cleft palate and Coarse facial features
In the following list you will find some of the most common rare diseases related to Cleft palate and Coarse facial features that can help you solving undiagnosed cases.
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Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome
Related symptoms:
- Growth delay
- Neoplasm
- Cleft palate
- Pain
- Ptosis
SOURCES:
OMIM
MENDELIAN
More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1
Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.
PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type|thanatophoric dysplasia, torrance variant|lethal short-limbed platyspondylic dwarfism, torrance type|platyspondylic lethal skeletal dysplasia, torrance type|plsd-t
Related symptoms:
- Cleft palate
- Low-set ears
- Depressed nasal bridge
- Macrocephaly
- Short neck
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE
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Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.
Related symptoms:
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
- Growth delay
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE
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
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about OSTEOCRANIOSTENOSIS
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
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
COFFIN-SIRIS SYNDROME Is also known as css
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
ORPHANET
MENDELIAN
More info about COFFIN-SIRIS SYNDROME
Top 5 symptoms//phenotypes associated to Cleft palate and Coarse facial features
Symptoms // Phenotype |
% cases |
Global developmental delay |
Common - Between 50% and 80% cases
|
Growth delay |
Uncommon - Between 30% and 50% cases
|
Hypertelorism |
Uncommon - Between 30% and 50% cases
|
Seizures |
Uncommon - Between 30% and 50% cases
|
Abnormal facial shape |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Cleft palate and Coarse facial features. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Wide mouth
Short distal phalanx of finger
Cryptorchidism
Dandy-Walker malformation
Hearing impairment
Microcephaly
Intrauterine growth retardation
Depressed nasal bridge
Anteverted nares
Small nail
Short nose
Short philtrum
Intellectual disability
Patent ductus arteriosus
Generalized hypotonia
Midface retrusion
Short neck
Prominent forehead
Skeletal dysplasia
Pulmonary hypoplasia
Short stature
Bowing of the long bones
Absent speech
Tapered finger
Thin upper lip vermilion
Muscular hypotonia
Ventricular septal defect
Posteriorly rotated ears
Hydrocephalus
Clinodactyly
Hypoplasia of the corpus callosum
Failure to thrive
Epicanthus
Brachydactyly
Wide nasal bridge
Macrocephaly
Hernia
High palate
Rare Symptoms - Less than 30% cases
Low-set ears
Ptosis
Cutis marmorata
Microphthalmia
Broad nasal tip
Sparse scalp hair
Polydactyly
Anal atresia
Severe global developmental delay
Renal cyst
Plagiocephaly
Limb undergrowth
Ambiguous genitalia
Retrognathia
Obesity
Osteopenia
Omphalocele
Long philtrum
Thick lower lip vermilion
Wormian bones
Redundant skin
Sensorineural hearing impairment
Motor delay
Strabismus
Hypospadias
Inguinal hernia
Umbilical hernia
Deep philtrum
Macroglossia
Hydronephrosis
Cleft lip
Flared metaphysis
Malar flattening
Micropenis
Short ribs
Pectus excavatum
Short foot
Disproportionate short-limb short stature
Pneumonia
Narrow chest
Atrial septal defect
Thin ribs
Constipation
Flat acetabular roof
Intellectual disability, severe
Hypoplastic pelvis
Talipes equinovarus
Single transverse palmar crease
Micromelia
Lethal skeletal dysplasia
Abdominal distention
Recurrent fractures
Polymicrogyria
Thickened nuchal skin fold
Ascites
Scaphocephaly
Hyperactive deep tendon reflexes
Small for gestational age
Craniosynostosis
Severe short stature
Mandibular prognathia
Broad palm
Oligohydramnios
Decreased fetal movement
Short finger
Progressive microcephaly
Cardiac arrest
Hypocalcemia
Growth abnormality
Hyperostosis
Hypokinesia
Slender long bone
Aniridia
Pain
U-Shaped upper lip vermilion
Shortening of all distal phalanges of the fingers
Radial bowing
Abnormality of the nervous system
Autistic behavior
Abnormality of the liver
Cleft upper lip
Oral cleft
Inability to walk
Downturned corners of mouth
Highly arched eyebrow
Aganglionic megacolon
Short toe
Infantile muscular hypotonia
Delayed ossification of carpal bones
Tented upper lip vermilion
Elevated alkaline phosphatase
Facial capillary hemangioma
Cupped ear
Long palpebral fissure
Upslanted palpebral fissure
Anteriorly placed anus
Abnormally large globe
Thickened helices
Abnormality of the rib cage
Profound global developmental delay
Severe intrauterine growth retardation
Downslanted palpebral fissures
Asplenia
Abnormality of cardiovascular system morphology
Depressed nasal ridge
Congenital diaphragmatic hernia
Thick eyebrow
Joint hyperflexibility
Feeding difficulties in infancy
Recurrent respiratory infections
Kyphosis
Bilateral single transverse palmar creases
Abnormality of the dentition
Ventriculomegaly
Cataract
Nystagmus
Scoliosis
Testicular torsion
Diaphragmatic eventration
Long eyelashes
Generalized hirsutism
Tics
Lacrimation abnormality
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Hypoplastic fifth fingernail
Hypoplastic fifth toenail
Abnormality of the intervertebral disk
Aplasia/Hypoplasia of the patella
Slow-growing hair
Abnormality of the clavicle
Coxa valga
Partial agenesis of the corpus callosum
Abnormality of the hip bone
Ectopic kidney
Aplasia/Hypoplasia of the cerebellum
Elbow dislocation
Renal hypoplasia/aplasia
Spina bifida occulta
Periventricular leukomalacia
Large forehead
Short hallux
Feeding difficulties
Gastroesophageal reflux
High forehead
Hyperactivity
Clinodactyly of the 5th finger
Frontal bossing
Delayed speech and language development
Micrognathia
Conductive hearing impairment
Hypoplastic spleen
Overtubulated long bones
Thin clavicles
Aplasia/hypoplasia of the extremities
Ankyloglossia
Cloverleaf skull
Decreased skull ossification
Kyphoscoliosis
Anxiety
High anterior hairline
Stereotypy
Arachnoid cyst
Infantile spasms
Short middle phalanx of finger
Abnormality of the hand
Narrow palpebral fissure
Finger clinodactyly
Hip dysplasia
Aggressive behavior
Delayed eruption of teeth
Small hand
High, narrow palate
Thick vermilion border
Attention deficit hyperactivity disorder
Sparse hair
Low-set, posteriorly rotated ears
Radial deviation of finger
Osteoporosis
Recurrent upper respiratory tract infections
Natal tooth
Postaxial polydactyly
Prominent nose
Joint swelling
Renal hypoplasia
Cerebellar vermis hypoplasia
Encephalocele
Renal dysplasia
Rhizomelia
Spontaneous abortion
Microretrognathia
Relative macrocephaly
Preaxial polydactyly
Thoracic hypoplasia
Molar tooth sign on MRI
Occipital encephalocele
Respiratory failure
Bell-shaped thorax
Thoracic dysplasia
Bifid tongue
Cleft soft palate
Horizontal ribs
Lobulated tongue
Squared iliac bones
Hypoplastic facial bones
Unicoronal synostosis
Hepatomegaly
Growth hormone excess
Splenomegaly
Hypoglycemia
Abnormality of the kidney
Macrotia
Cerebellar hypoplasia
Premature birth
Protuberant abdomen
Periostosis
Eczematoid dermatitis
Hip pain
Polyhydramnios
Wide cranial sutures
Platyspondyly
Long clavicles
Short palm
Seborrheic dermatitis
Clubbing of fingers
Hydrops fetalis
Short long bone
Genu varum
Short thorax
Hypoplastic scapulae
Heart block
Severe platyspondyly
Respiratory insufficiency
Flushing
Osteolytic defects of the phalanges of the hand
Severe limb shortening
Decreased cranial base ossification
Disc-like vertebral bodies
Hypoplastic pubic bone
Hypoplastic ilia
Abnormality of the carpal bones
Neonatal short-limb short stature
Abnormality of the abdominal wall
Hypoplastic ischia
Hypoplasia of the capital femoral epiphysis
Metaphyseal cupping
Apnea
Overgrowth
Intellectual disability, progressive
Severe failure to thrive
Skin rash
Neoplasm
Hypertrophic cardiomyopathy
Erythema
Thin vermilion border
Bifid uvula
Delayed myelination
Ventricular hypertrophy
Arthritis
Left ventricular hypertrophy
Short chin
Lissencephaly
Failure to thrive in infancy
Protruding tongue
Periorbital fullness
Cardiomyopathy
Skull asymmetry
Arthralgia
Subperiosteal bone formation
Hyperhidrosis
Delayed skeletal maturation
Abnormal heart morphology
Respiratory tract infection
Dolichocephaly
Wide nose
Flexion contracture
Wide intermamillary distance
Broad thumb
Congenital hip dislocation
Multicystic kidney dysplasia
Hypertonia
Limitation of joint mobility
Abnormality of the face
Visceromegaly
Abnormality of the outer ear
Psoriasiform dermatitis
Large for gestational age
Supernumerary nipple
Neuroblastoma
Syringomyelia
Central hypotonia
Nevus flammeus
Enlarged kidney
Neonatal hypoglycemia
Abnormality of the vasculature
Skin tags
Diastasis recti
Hemihypertrophy
Abnormality of earlobe
Large fontanelles
Thickened calvaria
Thickened skin
Palmoplantar hyperkeratosis
Patent foramen ovale
Clubbing
Acne
Disproportionate tall stature
Arthropathy
Tethered cord
Postauricular pit
Auricular pit
Prune belly
Embryonal neoplasm
Anterior creases of earlobe
Abdominal wall defect
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
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Downslanted palpebral fissures and Polymicrogyria, related diseases and genetic alterations
Brachydactyly and Prominent forehead, related diseases and genetic alterations
Skeletal muscle atrophy and Acute lymphoblastic leukemia, related diseases and genetic alterations
Ptosis and Severe global developmental delay, related diseases and genetic alterations
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