Cleft palate, and Abnormal bleeding

Diseases related with Cleft palate and Abnormal bleeding

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


Top matches:

Low match FOCAL FACIAL DERMAL DYSPLASIA TYPE IV


Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

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Other less relevant matches:

Low match DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3


DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Low 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

Low 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

Low match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Cleft palate and Abnormal bleeding

Symptoms // Phenotype % cases
Bruising susceptibility Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Soft skin Uncommon - Between 30% and 50% cases
Cleft upper lip Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Inguinal hernia Pes planus Cutis laxa Corneal erosion Hearing impairment High palate Hypertelorism Umbilical hernia Arachnodactyly Joint hypermobility Pain Mitral valve prolapse Blue sclerae Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Kyphoscoliosis Edema Generalized hypotonia Disproportionate tall stature Muscular hypotonia Flexion contracture Sensorineural hearing impairment Motor delay Ptosis Myopia Gait disturbance Visual loss Talipes equinovarus Pectus excavatum Microcornea Increased susceptibility to fractures Osteoporosis Hyperextensible skin Glaucoma Neonatal hypotonia Cleft soft palate Fibrosarcoma Pulmonic stenosis Camptodactyly Microcephaly Muscle weakness Headache Proptosis Short stature Aortic regurgitation Aortic dissection Mitral regurgitation Osteoarthritis Vomiting Spondylolisthesis Abnormality of the liver Dilatation Arterial tortuosity Cataract Hydrocephalus Scarring Bifid uvula Abnormality of the sternum Cellulitis Skin rash Burkitt lymphoma Carcinoma Neoplasm of the eye Weight loss Vitritis Neoplasm Strabismus Visual impairment Sebaceous gland carcinoma Abnormal facial shape Ewing sarcoma Anemia Histiocytoma Malar flattening Liposarcoma Blindness Hyphema Uveitis Leukemia Anisocoria Osteosarcoma Anemia of inadequate production Acute monocytic leukemia Astrocytoma Buphthalmos Inflammatory abnormality of the eye Acute myeloid leukemia Retinoblastoma Vitreous hemorrhage Ocular pain Leiomyosarcoma Glioblastoma multiforme Soft tissue sarcoma Neurofibromas Myelodysplasia Sarcoma Increased intracranial pressure Leukocoria Anorexia Lymphoma Chromosome breakage Malar rash Abnormality of skin pigmentation Postural instability Proteinuria Pineal cyst Dolichocephaly Tall stature Overgrowth Syncope Long face Smooth philtrum Arthrogryposis multiplex congenita Small for gestational age Joint contracture of the hand Pectus carinatum Abnormal cardiac septum morphology Retrognathia Brachycephaly Hyporeflexia Midface retrusion Exotropia Atrioventricular block Downslanted palpebral fissures Hiatus hernia Cervical spine instability Bilateral coxa valga Arterial dissection Ascending aortic dissection Graves disease Broad face Aortic root aneurysm Patent foramen ovale Long palpebral fissure Celiac disease Reduced subcutaneous adipose tissue Decreased muscle mass Cerebral hemorrhage Ectopia lentis Ventricular septal defect Growth delay Iris neovascularization Hypogonadism Growth hormone deficiency Paresthesia Intellectual disability Anxiety Photophobia Diabetes mellitus Arrhythmia Recurrent urinary tract infections Obesity Abnormality of cardiovascular system morphology Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Webbed neck Telangiectasia Lipedema Venous insufficiency Spinalarachnoid cyst Abnormality of the pulmonary vasculature Predominantly lower limb lymphedema Knee pain Renal duplication Distichiasis Varicose veins Lymphedema Tubulointerstitial nephritis Overweight Glomerulopathy Ectropion Recurrent skin infections Conjunctivitis Gynecomastia Nystagmus Migraine Knee osteoarthritis Optic nerve coloboma Single transverse palmar crease Metabolic acidosis Abdominal distention Intestinal malrotation Gastrointestinal hemorrhage Choanal atresia Abnormal intestine morphology Hyponatremia Keratitis Preauricular pit Mild short stature Abnormality of digit Rectovaginal fistula Toe syndactyly Villous atrophy Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Abnormality of the dentition Conductive hearing impairment Myalgia Hip dislocation Joint hyperflexibility Retinal detachment Recurrent fractures Hip dysplasia Anal atresia Polyhydramnios Abnormality of epiphysis morphology Skin vesicle Cleft lip Sparse hair Carious teeth Nevus Focal-onset seizure Abnormal blistering of the skin Hemiparesis Short chin Hemangioma Dermal atrophy Intracranial hemorrhage Cupped ear Aplasia cutis congenita Acidosis Unilateral cleft lip Abnormality of the cheek Fragmented elastic fibers in the dermis Abnormal mast cell morphology Abnormality of buccal mucosa Abnormality of epidermal morphology Micrognathia Low-set ears Wide nasal bridge Macrocephaly Diarrhea Syndactyly Abnormality of metabolism/homeostasis High myopia Congenital hip dislocation Uterine prolapse Back pain High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Aortic rupture Abnormality of the skeletal system Atrial septal defect Joint laxity Dental malocclusion Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Bicuspid aortic valve Aortic aneurysm Bladder diverticulum Slender finger Abnormal joint morphology Striae distensae Subarachnoid hemorrhage Dilatation of the cerebral artery Low back pain Osteochondritis Dissecans Thoracic aortic aneurysm Hip osteoarthritis Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Intervertebral disc degeneration Keloids Follicular hyperkeratosis Corneal dystrophy Myopathy Hallux valgus Keratoconus Megalocornea Sclerocornea Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Epicanthus Skeletal muscle atrophy Cardiomyopathy Elevated serum creatine phosphokinase Atrophic scars Hyperkeratosis Osteopenia Muscular dystrophy Abnormality of the foot Waddling gait Sloping forehead Hypotelorism Severe muscular hypotonia Poor head control Easy fatigability Poor suck Congenital muscular dystrophy Difficulty climbing stairs Increased arm span



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