Cleft palate, and Blue sclerae

Diseases related with Cleft palate and Blue sclerae

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Medium match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

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Other less relevant matches:

Medium match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Medium match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium match GOLDBERG-SHPRINTZEN MEGACOLON 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

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Blue sclerae

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Talipes equinovarus Pectus excavatum Hypertelorism Clinodactyly Umbilical hernia Global developmental delay Wide nasal bridge Intellectual disability Brachydactyly Kyphoscoliosis Proptosis Micrognathia Cryptorchidism Sensorineural hearing impairment Hernia Low-set ears Pes planus Joint hypermobility Bruising susceptibility Soft skin Depressed nasal bridge Epicanthus Ventricular septal defect Short neck Midface retrusion Long eyelashes Muscular hypotonia Downslanted palpebral fissures Pectus carinatum Ptosis Cutis laxa Hip dislocation Hyperextensible skin

Rare Symptoms - Less than 30% cases


Hip dysplasia Short nose Growth delay Finger syndactyly Abnormal facial shape Oligodontia Abnormality of the dentition Synophrys Highly arched eyebrow Hypodontia Camptodactyly Long philtrum Neonatal hypotonia Long palpebral fissure Flexion contracture Patent foramen ovale Gingival overgrowth Specific learning disability Patent ductus arteriosus Sparse hair Upslanted palpebral fissure Telecanthus Microcephaly High palate Myopia Gait disturbance Osteopenia Arachnodactyly Motor delay Posteriorly rotated ears Prominent forehead Corneal erosion Cleft soft palate Retrognathia Syndactyly Carpal synostosis Megalocornea Hypospadias Increased susceptibility to fractures Seizures Severe short stature Macrocephaly Sloping forehead Flat face Short philtrum Anteverted nares Microcornea Downturned corners of mouth Overgrowth Mitral valve prolapse Micromelia Frontal bossing Abnormality of the penis Ridged fingernail Naevus flammeus of the eyelid Ascending aortic dissection Arterial tortuosity Euryblepharon Aortic root aneurysm Graves disease Tall stature Dilatation Hyporeflexia Brachycephaly Abnormal cardiac septum morphology Small for gestational age Dolichocephaly Arthrogryposis multiplex congenita Smooth philtrum Long face Bifid uvula Syncope Osteoarthritis Mitral regurgitation Exotropia Spondylolisthesis Joint contracture of the hand Aortic regurgitation Atrioventricular block Ectopia lentis Cerebral hemorrhage Decreased muscle mass Reduced subcutaneous adipose tissue Abnormality of the sternum Celiac disease Bilateral coxa valga Hiatus hernia Aortic dissection Broad face Arterial dissection Bifid tongue Cervical spine instability Abnormal form of the vertebral bodies Abnormality of the genitourinary system Sparse eyebrow Bifid scrotum Hypoplasia of the brainstem Corneal ulceration Strabismus Clinodactyly of the 5th finger Alopecia Camptodactyly of finger Short palm Wide nose High, narrow palate Hypoplasia of penis Median cleft lip and palate Pointed chin Hemivertebrae Epispadias Coxa valga Coxa vara Sacral dimple Fingernail dysplasia Femoral hernia Elbow dislocation Open bite Increased number of teeth Capillary hemangioma Anodontia Hypoplastic labia majora Clitoral hypoplasia Progressive microcephaly Increased arm span Bulbous nose Ventriculomegaly Hypoplasia of the corpus callosum Constipation Cerebellar hypoplasia Macrotia Protruding ear Craniosynostosis Avascular necrosis of the capital femoral epiphysis Coloboma Curly eyelashes Hypoplastic labia minora Prominent nasal bridge Severe global developmental delay Abnormality of the gingiva Sparse and thin eyebrow Polymicrogyria Thick eyebrow Iris coloboma Aortic rupture Small hand Everted lower lip vermilion Tapered finger Hypoplasia of the maxilla Wide intermamillary distance Optic disc pallor Sparse scalp hair Pachygyria Aganglionic megacolon Thick vermilion border Webbed neck Abnormal eye morphology Short metacarpal Abnormality of the metaphysis Bowing of the long bones Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Anisospondyly Optic atrophy Microdontia Pulmonary hypoplasia Bilateral sensorineural hearing impairment Short metatarsal Deep philtrum Abnormality of the hand Radioulnar synostosis Tarsal synostosis Abnormality of digit Short hallux Diastema Hitchhiker thumb Talon cusp Depressed nasal ridge Narrow chest Visual loss Visual impairment Platyspondyly Decreased body weight Epiphyseal dysplasia Flared metaphysis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Ataxia Nystagmus Spasticity Feeding difficulties Absent speech Joint stiffness Joint laxity Toe syndactyly Abnormality of movement Chorea Cerebral visual impairment Rotary nystagmus Ankyloglossia Respiratory insufficiency Atrial septal defect Malar flattening Narrow mouth Edema Osteoporosis Arterial rupture Hypotelorism Hypoplastic right heart Muscle weakness Skeletal muscle atrophy Cardiomyopathy Myopathy Elevated serum creatine phosphokinase Hyperkeratosis Scarring Muscular dystrophy Abnormality of the foot Waddling gait Severe muscular hypotonia Anteriorly placed anus Poor head control Easy fatigability Poor suck Congenital muscular dystrophy Disproportionate tall stature Difficulty climbing stairs Atrophic scars Follicular hyperkeratosis Bladder diverticulum Keloids High-frequency sensorineural hearing impairment Pulmonary artery atresia Agenesis of permanent teeth Glaucoma Keratoconus Conductive hearing impairment Myalgia Pulmonic stenosis Joint hyperflexibility Retinal detachment Recurrent fractures High myopia Abnormality of epiphysis morphology Congenital hip dislocation Corneal dystrophy Hallux valgus Sclerocornea Mesomelia Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Kyphosis Cleft lip Dental malocclusion Broad thumb Short phalanx of finger Tricuspid regurgitation Onychogryposis of fingernail



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