Cleft palate, and Headache

Diseases related with Cleft palate and Headache

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


Top matches:

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

Low match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Low match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

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Other less relevant matches:

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 BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS 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 ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Low match SAETHRE-CHOTZEN SYNDROME


Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Low match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Top 5 symptoms//phenotypes associated to Cleft palate and Headache

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Failure to thrive Proptosis Hearing impairment Scoliosis Downslanted palpebral fissures Craniosynostosis Dental malocclusion Patent ductus arteriosus Migraine Osteoporosis Abnormal facial shape Arnold-Chiari malformation Ptosis Abnormality of the skeletal system Low anterior hairline Midface retrusion Umbilical hernia Hypoplasia of the maxilla Cataract Convex nasal ridge Increased intracranial pressure Open bite Telecanthus Craniofacial dysostosis Inguinal hernia Hernia Pain Seizures Neoplasm Intellectual disability Triphalangeal thumb Macrocephaly Low-set ears Myopia Frontal bossing Brachycephaly Dolichocephaly Micrognathia Wormian bones Delayed puberty Ventricular septal defect Turricephaly Dry skin Anterior plagiocephaly

Rare Symptoms - Less than 30% cases


Abnormal form of the vertebral bodies Hypoplastic 5th lumbar vertebrae Platybasia Optic atrophy Visual impairment Rough bone trabeculation Absent frontal sinuses Skin ulcer Generalized hirsutism Periodontitis Partial absence of toe Aortic valve stenosis Short toe Hypertension Anemia Bone pain Abnormality of the fingernails Microcephaly Decreased skull ossification Prominent occiput Cleft lip High forehead Abnormality of the skull Patellar dislocation Glomerulonephritis Multiple renal cysts Syringomyelia Posteriorly rotated ears Conductive hearing impairment Inflammatory abnormality of the eye Abnormality of the voice Thickened skin Coarse hair Osteolysis Biconcave vertebral bodies Delayed cranial suture closure Mitral stenosis Mitral regurgitation Atrial septal defect Bowing of the long bones Long philtrum Mandibular prognathia Syndactyly Depressed nasal bridge Hypospadias Bicoronal synostosis Abnormality of cardiovascular system morphology Brachyturricephaly Cloverleaf skull Cleft soft palate Coronal craniosynostosis Kyphosis Narrow mouth Trigonocephaly Hypotelorism Splenomegaly Abnormality of the dentition Short neck Parietal foramina Anteverted nares Wide nasal bridge Hepatomegaly Peripheral neuropathy Cleft upper lip Ventricular hypertrophy Recurrent respiratory infections Epidermal acanthosis Acanthosis nigricans Mitral valve prolapse Intestinal malrotation Full cheeks Recurrent fractures Downturned corners of mouth Joint laxity Iris coloboma Wide nose Short distal phalanx of finger Thick eyebrow Thin vermilion border Joint hyperflexibility Synophrys Pectus carinatum Coarse facial features Buphthalmos Shallow orbits Arthralgia Broad hallux Skeletal dysplasia Osteopenia Abnormal palate morphology Sensorineural hearing impairment Hypoplasia of the zygomatic bone Abnormality of the mandible Neuroblastic tumors Global developmental delay Plagiocephaly Cryptorchidism Flat forehead Duplication of the distal phalanx of hand Deviated nasal septum Skull asymmetry Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Abnormal nasolacrimal system morphology Proximal radio-ulnar synostosis Congenital adrenal hyperplasia Neoplasm of the breast Lacrimal duct stenosis Lambdoidal craniosynostosis Oxycephaly Abnormal hair pattern Bilateral cleft lip and palate Premature closure of fontanelles Prominent crus of helix Blepharospasm Hematuria Basilar invagination Premature loss of permanent teeth Basilar impression Flank pain Respiratory arrest Osteolytic defects of the phalanges of the hand Polycystic kidney dysplasia Joint hypermobility Renotubular dysgenesis Paresthesia Respiratory tract infection Abnormality of the kidney Recurrent infections Cleft of chin Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of the 3rd finger Adrenal hyperplasia Abnormality of the antihelix Flexion contracture Microtia Single transverse palmar crease Flat face Facial asymmetry Toe syndactyly Finger syndactyly Broad forehead Prominent nasal bridge Protruding ear Amblyopia Hyperlordosis Low-set, posteriorly rotated ears Intellectual disability, moderate Clinodactyly of the 5th finger Abnormal heart morphology Clinodactyly Epicanthus Broad thumb Bilateral single transverse palmar creases Short columella Epiphora Bilateral cleft lip Narrow nose External ear malformation Abnormality of digit Vertebral fusion Long nose Hallux valgus Radioulnar synostosis Elbow flexion contracture Abnormality of pelvic girdle bone morphology Breast carcinoma Abnormality of the genitourinary system Sleep apnea Cutaneous syndactyly Retinal calcification Narrow palate Coxa valga Pineoblastoma Glaucoma Pinealoma Subarachnoid hemorrhage Osteochondritis Dissecans Low back pain Spondylolisthesis Aortic dissection Soft skin Dilatation of the cerebral artery Striae distensae Hip osteoarthritis Abnormal joint morphology Slender finger Abnormality of the sternum Disproportionate tall stature Aortic aneurysm Back pain Thoracic aortic aneurysm Arterial tortuosity Aortic regurgitation Short nose Neutropenia Autistic behavior Pallor Retrognathia Autism Arrhythmia Fatigue Dural ectasia Intrauterine growth retardation Growth delay Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Protrusio acetabuli Abdominal aortic aneurysm Bicuspid aortic valve Left ventricular hypertrophy Tetralogy of Fallot Narrow forehead Genu valgum Abnormality of the pinna Unicoronal synostosis Metopic synostosis Increased number of teeth Visual field defect Hypermetropia 2-3 toe syndactyly Symmetrical, oval parietal bone defects Aplasia cutis congenita of scalp Calvarial skull defect Spina bifida occulta Spina bifida Encephalocele Confusion Short metatarsal Underdeveloped supraorbital ridges Osteoarthritis Dilatation Atrial fibrillation Bruising susceptibility Arachnodactyly Pulmonic stenosis Camptodactyly Pes planus High palate Split foot Calcaneonavicular fusion Hallux varus Broad metatarsal Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Broad hallux phalanx Preaxial foot polydactyly Bifid uvula Thick lower lip vermilion Iris neovascularization Acute myeloid leukemia Astrocytoma Acute monocytic leukemia Anemia of inadequate production Osteosarcoma Chromosome breakage Uveitis Cellulitis Vitreous hemorrhage Neurofibromas Myelodysplasia Sarcoma Anorexia Lymphoma Postural instability Retinoblastoma Ocular pain Leukemia Histiocytoma Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Vitritis Anisocoria Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Leiomyosarcoma Abnormality of skin pigmentation Skin rash Depressed nasal ridge Esophagitis Respiratory insufficiency Feeding difficulties Persistence of hemoglobin F Fetal distress Reticulocytopenia Increased mean corpuscular volume Acute leukemia Hypopigmentation of the skin Tracheomalacia Macrocytic anemia Abnormality of the hand Abnormality of the urinary system Melanoma Short thumb Abnormality of the genital system Renal insufficiency Nevus Carcinoma Membranous nephropathy Weight loss Visual loss Vomiting Blindness Nystagmus Short uvula Abnormal sacrum morphology Short metacarpal Choanal stenosis Proportionate short stature Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Laryngomalacia Abnormality of the metacarpal bones Choanal atresia Osteolytic defects of the phalanges of the toes



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