Cleft palate, and Subcutaneous nodule

Diseases related with Cleft palate and Subcutaneous nodule

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


Top matches:

Medium match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME


Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

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Other less relevant matches:

Low match LIPOID PROTEINOSIS


Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Low match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Subcutaneous nodule

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Papule Pectus excavatum Telangiectasia Neoplasm Umbilical hernia Abnormality of the skin Intellectual disability Scarring Joint hyperflexibility Hydrocephalus High palate Dilatation Macule Cutis marmorata Intracranial hemorrhage Abnormality of skin pigmentation Thin skin Colonic diverticula Multiple lipomas Mitral valve prolapse Hypertelorism Abnormality of the gingiva Carcinoma Joint hypermobility Micrognathia Cognitive impairment Brachydactyly Abnormality of the dentition Joint laxity Abnormality of cardiovascular system morphology Inguinal hernia Melanocytic nevus Alopecia Redundant skin Gingival overgrowth Hypertension Macrocephaly Myopathy Narrow mouth Proptosis Acne Cryptorchidism Overgrowth Telangiectasia of the skin

Rare Symptoms - Less than 30% cases


Fragile skin Hip dislocation Diarrhea Vertigo Cafe-au-lait spot Lymphoma Broad thumb Frontal bossing Nausea and vomiting Hand polydactyly Arterial stenosis Myopia Muscular hypotonia High, narrow palate Generalized hypotonia Skeletal muscle atrophy Gastroesophageal reflux Reduced visual acuity Arterial dissection Gingivitis Kyphosis Oligodontia Goiter Alopecia of scalp Thick lower lip vermilion Hoarse voice Cerebral calcification Thyroid carcinoma Osteolysis Joint dislocation Osteoarthritis Aplasia/Hypoplasia of the abdominal wall musculature Microdontia Muscle weakness Abnormality of the foot Migraine Pruritus Congenital hip dislocation Narrow nasal bridge Hypothyroidism Ascending tubular aorta aneurysm Constipation Visual loss Keratoconus Bruising susceptibility Periorbital edema Renovascular hypertension Hyperextensible skin Edema Skin tags Arteriovenous malformation Anteriorly placed anus Intestinal polyposis Striae distensae Reduced number of teeth Arnold-Chiari malformation Hamartomatous polyposis Narrow palate Abnormality of the nail Abnormality of the face Angioid streaks of the fundus Redundant neck skin Palmoplantar keratoderma Dolichocephaly Patchy alopecia Angina pectoris Macrotia Agenesis of corpus callosum Respiratory distress Anteverted nares Downslanted palpebral fissures Optic atrophy Excessive wrinkled skin Strabismus Aplasia/Hypoplasia of the earlobes Papilloma Abnormality of hair texture Blue sclerae Verrucae Clinodactyly Aortic aneurysm Hypermelanotic macule Epicanthus Blindness Multiple cafe-au-lait spots Abnormality of the skeletal system Dysphagia Intrauterine growth retardation Low-set ears Growth delay Hearing impairment Hamartoma Cystocele Visceral angiomatosis Hashimoto thyroiditis Lipoma Immunodeficiency Meningioma Pes planus Delayed gross motor development Hypoglycemia Delayed skeletal maturation Flexion contracture Lymphedema Cachexia Neoplasm of the adrenal cortex Abnormal large intestine morphology Neoplasm of the breast Tall stature Nevus Short nose Uterine neoplasm Abdominal wall muscle weakness Abnormality of the optic nerve Capillary hemangioma Subcutaneous hemorrhage Neurological speech impairment Irregular hyperpigmentation Wide nose Long philtrum Sleep disturbance Genital hernia Hyperkeratotic papule Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Arterial calcification Vomiting Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Metamorphopsia Intermittent claudication Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Fatigue Depressivity Tendon rupture Elbow dislocation Premature rupture of membranes Anorectal anomaly Abnormality of the menstrual cycle Venous insufficiency Gastrointestinal dysmotility Abnormality of the wrist Atypical scarring of skin Acrocyanosis Soft skin Aortic root aneurysm Keratoconjunctivitis sicca Decreased fertility Decreased nerve conduction velocity Arrhythmia Abnormal palate morphology Wormian bones Limitation of joint mobility Abdominal distention Respiratory insufficiency Nausea Paresthesia Malabsorption Apnea Myalgia Arthralgia Osteoporosis Talipes equinovarus Periodontitis Hypospadias Hyperthyroidism Incoordination Dysdiadochokinesis Abnormality of the thyroid gland Cystic hygroma Cellulitis Acute myeloid leukemia Ovarian neoplasm Breast carcinoma Thyroiditis Hodgkin lymphoma Renal cell carcinoma Scaphocephaly Abnormality of the vasculature Papilledema Prolactin excess Palmoplantar hyperkeratosis Melanoma Hydrocele testis Chronic diarrhea Leukemia Polymicrogyria Hypoplasia of the maxilla Abnormal cerebellum morphology Macroglossia Decreased antibody level in blood Intention tremor Exotropia Hypopigmented skin patches Gynecomastia Lymphopenia Neoplasm of the skin Cranial nerve paralysis Drooling Hemangioma Increased intracranial pressure Megalencephaly Furrowed tongue Intellectual disability, moderate Fibroadenoma of the breast Colorectal polyposis Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Follicular thyroid carcinoma Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Endometrial carcinoma Varicocele Abnormality of the uterus Fibroma Astrocytoma Ovarian cyst Bone cyst Cellular immunodeficiency Long penis Cavernous hemangioma Enlarged polycystic ovaries Generalized hyperkeratosis Thyroid adenoma Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Subcutaneous lipoma Abnormality of the penis Ovarian carcinoma Intestinal polyp Abnormality of the kidney Proximal muscle weakness Glaucoma Dilatation of the cerebral artery Scleroderma Prematurely aged appearance Hemoptysis Esophageal atresia Sprengel anomaly Premature loss of teeth Subarachnoid hemorrhage Abnormal heart valve morphology Abnormal eyelash morphology Narrow nose Transient ischemic attack Aortic dissection Abnormally large globe Hematochezia Varicose veins Abnormal joint morphology Aplasia/Hypoplasia of the eyebrow Reduced consciousness/confusion Abnormal bleeding Deeply set eye Arthritis Telecanthus Protruding ear Carious teeth Thin vermilion border Flat face Premature birth Rheumatoid arthritis Cardiac arrest Short chin Abnormal intestine morphology Sleep apnea Tinnitus Abnormality of the urinary system Hypokalemia Osteolytic defects of the phalanges of the hand Abnormal pupil morphology Autism Failure to thrive Uterine prolapse Arteriovenous fistulas of celiac and mesenteric vessels Hypoplastic lacrimal duct Premature delivery because of cervical insufficiency or membrane fragility Hemothorax Hypermobility of distal interphalangeal joints Ataxia Cataract Arterial rupture Delayed speech and language development Motor delay Tremor Atrial septal defect Intellectual disability, mild Headache Recurrent infections Uterine rupture Foot acroosteolysis Bladder diverticulum Cigarette-paper scars Pneumothorax Premature loss of primary teeth Ocular pain Dermal translucency Gastrointestinal infarctions Abnormal oral frenulum morphology Internal hemorrhage Arteriovenous fistula Spontaneous pneumothorax Absent earlobe Peripheral arteriovenous fistula Normal pressure hydrocephalus Pulmonary artery aneurysm Gingival recession Coronary artery aneurysm Molluscoid pseudotumors Arteriosclerosis Neuroma Pulmonary edema Increased body weight Stridor Chorioretinal coloboma Ectropion Ectopia lentis Brittle hair Short metatarsal Dermal atrophy Recurrent skin infections Renal hypoplasia/aplasia Spina bifida occulta Abnormality of dental enamel Multicystic kidney dysplasia Horseshoe kidney Pointed chin Short ribs Anophthalmia Spina bifida Short phalanx of finger Abnormality of epiphysis morphology Hypoplasia of dental enamel Omphalocele Split hand Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Postaxial hand polydactyly Nail dysplasia Dental malocclusion Short metacarpal Ectodermal dysplasia Abnormality of dental morphology Mild short stature Broad nasal tip Hypoplasia of the iris Labial hypoplasia Abnormality of the larynx Ulcerative colitis Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Foot polydactyly Open bite Aniridia Short clavicles Oligodactyly Ectrodactyly Facial cleft Aplasia cutis congenita Hypoplastic nipples Abnormality of digit Aplasia/Hypoplasia of the skin Vertebral fusion Colitis Mixed hearing impairment Short finger Supernumerary nipple Intestinal malrotation Hypodontia Hypoplasia of teeth Natal tooth Prominent umbilicus Palmoplantar cutis laxa Craniofacial dysostosis Oxycephaly Thickened helices Cloverleaf skull Abnormality of the pancreas Breech presentation Choanal stenosis Hypoplasia of the zygomatic bone Abnormality of the skull Hearing abnormality Turricephaly Underdeveloped supraorbital ridges Limited elbow extension Palmoplantar cutis gyrata Bifid scrotum Abnormality of vision Acanthosis nigricans Choanal atresia Small nail Epidermal acanthosis Prominent nasal bridge Craniosynostosis Abnormality of the eye Low-set, posteriorly rotated ears Midface retrusion Malar flattening Ventriculomegaly Depressed nasal bridge Prominent scrotal raphe Preauricular skin furrow Delayed eruption of teeth Erythema Iris coloboma Cleft upper lip Facial asymmetry Toe syndactyly Hypotrichosis Nail dystrophy Finger syndactyly Corneal opacity Microtia Cough Camptodactyly of finger Abnormal cardiac septum morphology Coloboma Sparse hair Abnormality of the pinna Microcephaly Patent ductus arteriosus Nystagmus Ventricular septal defect Syndactyly Microphthalmia Hernia Obesity Abnormal heart morphology Camptodactyly Hyperhidrosis Abdominal pain Polydactyly Weight loss Hydronephrosis Cleft lip Cholangitis Anomalous pulmonary venous return Abnormal mitral valve morphology Medullary thyroid carcinoma Cardiomyopathy Visual impairment Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Inguinal freckling Elevated urinary epinephrine Subcutaneous neurofibromas Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Lisch nodules Renal insufficiency Parathyroid hyperplasia Pheochromocytoma Achalasia Neoplasm of the endocrine system Flushing Freckling Neurofibromas Disproportionate tall stature Failure to thrive in infancy Aganglionic megacolon Hemiparesis Polyneuropathy Thick vermilion border Thick eyebrow Congestive heart failure Retinopathy Photophobia Hemiplegia/hemiparesis Abnormal thrombocyte morphology Restrictive cardiomyopathy Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Chorioretinal atrophy Abnormal retinal morphology Coronary artery atherosclerosis Tricuspid regurgitation Skin rash Abnormality of the thorax Ischemic stroke Cutis laxa Atherosclerosis Macular degeneration Nephrocalcinosis Mitral regurgitation Myocardial infarction Abnormality of the cardiovascular system Gastrointestinal hemorrhage Sudden cardiac death Postural instability Small for gestational age Stroke Hyperlordosis Coarse facial features Skin nodule Ridged fingernail Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Absence of the sacrum Midclavicular aplasia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Total anomalous pulmonary venous return Abnormal cornea morphology Hand oligodactyly Ureteral duplication Bifid nose Midclavicular hypoplasia Fever Pes cavus Memory impairment Abnormal facial shape Bilateral intracranial calcifications Tongue nodules Hoarse cry Paranoia Abnormal oral mucosa morphology Nasal polyposis Microglossia Delusions Pustule Oral-pharyngeal dysphagia Hallucinations Thickened skin Abnormal blistering of the skin Respiratory tract infection Thrombocytopenia Episodic fever Autoimmunity Everted lower lip vermilion Bifid uvula Inflammatory abnormality of the skin Vasculitis Combined immunodeficiency Recurrent viral infections Aggressive behavior Lymphadenitis Dystonia Absent speech Recurrent respiratory infections Hyperkeratosis Abnormality of the nervous system Lobular carcinoma in situ



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Poor speech, related diseases and genetic alterations Microphthalmia and Finger syndactyly, related diseases and genetic alterations Abnormality of the skeletal system and Brachycephaly, related diseases and genetic alterations Ptosis and Full cheeks, related diseases and genetic alterations

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