Cleft palate, and Thin skin

Diseases related with Cleft palate and Thin skin

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


Top matches:

Medium match ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE


Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

Medium match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

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Other less relevant matches:

Medium match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Medium match ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1


ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match EAR-PATELLA-SHORT STATURE SYNDROME


Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

Medium match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Medium match LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM


Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Medium match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Thin skin

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Narrow mouth Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Strabismus Muscular hypotonia Hearing impairment Inguinal hernia Joint laxity Joint hyperflexibility Posteriorly rotated ears Hernia Talipes equinovarus Cryptorchidism Wide nasal bridge Clinodactyly of the 5th finger Micrognathia Bifid uvula High palate Ectodermal dysplasia Alopecia Fine hair Broad forehead Microcephaly Macrocephaly Blepharophimosis Arachnodactyly Abnormality of the dentition Growth delay Syndactyly Generalized hypotonia Low-set ears Finger syndactyly Prominent nasal bridge Short philtrum Microtia Malar flattening Sparse and thin eyebrow Microdontia Clinodactyly Sparse scalp hair Absent septum pellucidum Oligodontia Kyphoscoliosis Sparse eyelashes Osteopenia Submucous cleft hard palate Nail dysplasia Ectrodactyly Hypoplasia of the maxilla Respiratory failure Narrow nose Telecanthus Joint hypermobility Short palm High, narrow palate Microretrognathia Hypodontia Severe short stature Cutis laxa Bilateral talipes equinovarus Talipes Failure to thrive Abnormal facial shape Camptodactyly Intrauterine growth retardation Flexion contracture Short neck Hyperextensible skin Frontal bossing Dermal atrophy Hypospadias Coxa valga Depressed nasal bridge High forehead Short palpebral fissure Nasolacrimal duct obstruction Specific learning disability Midface retrusion Sparse hair Brachydactyly

Rare Symptoms - Less than 30% cases


Cutaneous photosensitivity Breast hypoplasia Aplastic clavicle Epispadias Blue sclerae Bruising susceptibility Prominent forehead Delayed cranial suture closure Large fontanelles Pectus carinatum Scarring Motor delay Osteoporosis Lacrimal duct stenosis Proptosis Intellectual disability, mild Pectus excavatum Long eyelashes Elbow flexion contracture Feeding difficulties Fair hair Hypogonadism Delayed skeletal maturation Generalized hypopigmentation Sparse axillary hair Nail pits Dacryocystitis Abnormality of the skeletal system Abnormality of dental morphology Retrognathia Downslanted palpebral fissures Relative macrocephaly Long philtrum Hyperhidrosis Brachycephaly Thin upper lip vermilion Postnatal growth retardation Facial asymmetry Thick eyebrow Split foot Arthrogryposis multiplex congenita Joint dislocation Thick vermilion border Elbow dislocation Bilateral cryptorchidism Atrophic scars Progeroid facial appearance Generalized osteoporosis Dermal translucency Flat forehead Prominent scalp veins Hydronephrosis Femoral hernia Small for gestational age Carious teeth Toe syndactyly Abnormality of the foot Anal atresia Oral cleft Choanal atresia Split hand Conjunctivitis Micropenis Hypoplastic nipples Hiatus hernia Delayed eruption of teeth Macrotia Dyspnea Short nose Respiratory distress Abnormality of cardiovascular system morphology Myopia Hyperconvex fingernails Hyperconvex nail Conical tooth Abnormality of dental enamel Hypohidrosis Renal dysplasia Pulmonary hypoplasia Craniosynostosis Cleft upper lip Single transverse palmar crease Hypotrichosis Prominent nose Protruding ear Cleft lip Conductive hearing impairment Ptosis Abnormality of pelvic girdle bone morphology Radioulnar synostosis Overlapping toe Supernumerary nipple Gastroesophageal reflux Hypoplastic labia majora Long face Hip dysplasia Prematurely aged appearance Redundant skin Proximal symphalangism Finger clinodactyly Birth length less than 3rd percentile Abnormality of the face Hypoplastic labia minora Clitoral hypoplasia Skin ulcer Breast aplasia Abnormality of the nail Aplasia/Hypoplasia of the patella Melanocytic nevus Small anterior fontanelle Lateral clavicle hook Osteochondritis Dissecans Unilateral cryptorchidism Abnormal form of the vertebral bodies Anotia Freckling Alopecia of scalp Patellar aplasia Breech presentation Mandibular aplasia Short ear Abnormality of the patella Glaucoma Coarctation of aorta Nephrotic syndrome Mitral valve prolapse Intestinal malrotation Inflammatory abnormality of the skin Microcornea Tapered finger Retinal detachment Umbilical hernia Constipation Absent sternal ossification Atrial septal defect Ventriculomegaly Muscle weakness Morgagni diaphragmatic hernia Absent glenoid fossa Incomplete partition of the cochlea type II Flat glenoid fossa Microtia, third degree Aseptic necrosis Absent nipple Shawl scrotum Toenail dysplasia Narrow maxilla Fingernail dysplasia Camptodactyly of finger Feeding difficulties in infancy Lacrimal duct atresia Triphalangeal thumb Conical incisor Premature loss of permanent teeth Narrow jaw Conspicuously happy disposition Incomprehensible speech Renal hypoplasia/aplasia Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Cleft soft palate Broad hallux phalanx Genu valgum Wide anterior fontanel Recurrent urinary tract infections Genu varum Cutaneous finger syndactyly Thin ribs Disproportionate short stature Slender long bone Severe hearing impairment Emphysema Mild short stature Clitoral hypertrophy Atresia of the external auditory canal Abnormality of the outer ear Small hand Short chin Hemivertebrae Increased body weight Short ribs Joint contracture of the hand Abnormality of epiphysis morphology Thick lower lip vermilion Abnormality of the ribs Hypoplasia of penis High myopia Eczema Coloboma Aplasia/Hypoplasia of the skin Hypoplastic fingernail Premature skin wrinkling Choanal stenosis Abnormality of finger Osteopetrosis Microglossia Stiff finger Anteriorly placed anus Thickened calvaria Reduced subcutaneous adipose tissue Prominent superficial veins Limited elbow extension External genital hypoplasia Flared metaphysis Short middle phalanx of finger Cutis marmorata Hyperostosis Increased intracranial pressure Abnormality of the metacarpal bones Nail dystrophy Broad ribs Abnormal cortical bone morphology Knee flexion contracture Aplasia/Hypoplasia of the middle phalanges of the hand Broad clavicles Calvarial hyperostosis Absent axillary hair Abnormality of the penis Facial hyperostosis Elbow ankylosis Exodeviation Aplasia of the middle phalanx of the hand Lumbar kyphoscoliosis Cranial hyperostosis Symphalangism affecting the phalanges of the hand Sclerosis of skull base Delayed eruption of permanent teeth Abnormal nasolacrimal system morphology Progressive sclerosis of skull base Humeroradial synostosis Diaphyseal thickening Chordee Hyperextensibility of the finger joints Generalized osteosclerosis Cutaneous syndactyly Increased bone mineral density Proximal symphalangism of hands Cerebral hemorrhage Abnormality of the mouth Dry skin Distal arthrogryposis Fragile skin Abnormality of the sternum Self-mutilation Prolonged bleeding time Deeply set eye Abnormality of the coagulation cascade Congenital contracture Diastasis recti Pterygium Recurrent skin infections Adducted thumb Narrow palate Horseshoe kidney Low anterior hairline Exotropia Nephrolithiasis Wide intermamillary distance Low hanging columella Generalized joint laxity Short toe Agenesis of corpus callosum Hypoplasia of dental enamel Abnormality of the metaphysis Limitation of joint mobility Macroglossia Wide mouth Facial palsy Intellectual disability, moderate Mandibular prognathia Cerebral cortical atrophy Kyphosis Ecchymosis Hydrocephalus Sensorineural hearing impairment Abnormality of the duodenum Hyperalgesia Decreased palmar creases Talipes valgus Endocarditis Abnormal anterior chamber morphology Pneumothorax Short columella Broad thumb Abnormality of the periventricular white matter Mild global developmental delay Talipes equinovalgus Forearm undergrowth Ulnar bowing Ankyloblepharon Long toe Poor wound healing Small face Varicose veins Velopharyngeal insufficiency Periodontitis Hypohidrotic ectodermal dysplasia Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Proportionate short stature Curly hair Trichodysplasia Bowing of the legs Absent lacrimal punctum Sparse eyebrow Absent earlobe Advanced ossification of carpal bones Pili canaliculi Recurrent infections Dystrophic toenail Pili torti Dystrophic fingernails Thick nail Photophobia Dry hair Hyperkeratosis Polydactyly Recurrent respiratory infections Immunodeficiency Anhidrotic ectodermal dysplasia Fever Cystic renal dysplasia Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Lipodystrophy Accelerated skeletal maturation Broad nasal tip Abnormality of the zygomatic bone Coxa vara Skeletal muscle atrophy Epicanthus Pyloric stenosis Aortic aneurysm Rocker bottom foot Telangiectasia of the skin Keratoconus Aortic root aneurysm Abnormal carotid artery morphology Myocardial infarction Keratoglobus Long palm Median cleft lip and palate Pulmonary artery stenosis Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Aortic dissection Cardiac arrest Dilated cardiomyopathy Submucous cleft soft palate Flat face Small, conical teeth Aortic valve stenosis Bowing of the long bones Progressive alopecia Decreased number of sweat glands Hypertension Congenital diaphragmatic hernia Nevus Triangular face Fatigue Hip dislocation Abnormality of skin pigmentation Pulmonic stenosis Narrow chest Hypermetropia Congestive heart failure Dilatation Abnormality of the nervous system Pes planus Skeletal dysplasia Hypertrophic cardiomyopathy Generalized hyperpigmentation Vesicoureteral reflux Restlessness Aggressive behavior Thin vermilion border Smooth philtrum 11 pairs of ribs Poor speech Aqueductal stenosis Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Hand oligodactyly Phocomelia Anxiety Abnormality of the uterus Arrhinencephaly Autism Hyperactivity Aplasia/Hypoplasia of the ulna Deep-set nails Absent speech Absent forearm Behavioral abnormality Intellectual disability, severe Anteverted nares Bulbous nose Short tibia Hyperreflexia Sprengel anomaly Abnormality of digit Long nose Myopathic facies Short humerus Oligodactyly Aplasia/Hypoplasia of the radius Fibular hypoplasia Tented upper lip vermilion Drooling Dental crowding Wide nose Cardiorespiratory arrest Broad-based gait Hemiparesis Intellectual disability, profound Decreased testicular size Convex nasal ridge Febrile seizures Dental malocclusion Sleep disturbance Downturned corners of mouth Ventricular septal defect Delayed speech and language development Growth hormone deficiency Preaxial polydactyly Small nail Blepharitis Xerostomia Recurrent otitis media Hypopituitarism Hydroureter Epiphora Keratitis Hand polydactyly Abnormality of the urinary system Depressed nasal tip Abnormality of the genitourinary system Hypogonadotrophic hypogonadism Abnormality of the genital system Omphalocele Widely spaced teeth Coarse hair Oligohydramnios Abnormality of the voice Renal agenesis Non-midline cleft lip Bilateral cleft lip Blue irides Spasticity Duplicated collecting system Seizures Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Semilobar holoprosencephaly Ureterocele Abnormality of the nasopharynx Selective tooth agenesis Underdeveloped nasal alae Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Heat intolerance Palmoplantar keratoderma Anodontia Adermatoglyphia



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