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.


Top matches:

Medium match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


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

Medium match PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE


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

Medium match SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

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Other less relevant matches:

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


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

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


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

Medium match HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME


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

Medium match OSTEOCRANIOSTENOSIS


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

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


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

Medium match COFFIN-SIRIS SYNDROME


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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