High palate, and Nail dystrophy

Diseases related with High palate and Nail dystrophy

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

Top matches:

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Other less relevant matches:

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Nail dystrophy

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Nail dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Short distal phalanx of finger Short stature Depressed nasal bridge Brachydactyly Hypertelorism Wide nasal bridge Intellectual disability, severe Coarse facial features Cataract Cerebral atrophy Malar flattening Downslanted palpebral fissures Small nail Anteverted nares Muscular hypotonia Thick vermilion border Cryptorchidism Scoliosis Wide mouth Sensorineural hearing impairment Hepatomegaly Renal hypoplasia Bilateral sensorineural hearing impairment Retrognathia Full cheeks Delayed speech and language development Feeding difficulties High forehead Optic atrophy Low-set ears Short neck Open mouth Macroglossia Dolichocephaly Abnormality of the kidney Posteriorly rotated ears Hypospadias Short nose Ptosis Myopia Abnormal facial shape Growth delay Anonychia Prominent nose Umbilical hernia Edema Long philtrum Intellectual disability, progressive Bulbous nose Sparse hair Frontal bossing Large fontanelles Cleft palate Abnormality of the dentition Tapered finger Dystrophic fingernails Macrocephaly Genu valgum Mandibular prognathia

Rare Symptoms - Less than 30% cases

Vomiting Infantile spasms Hyperkeratosis Hypertonia Narrow chest Proptosis Delayed eruption of teeth Postnatal growth retardation Alopecia High, narrow palate Absent eyebrow Scarring Hypotrichosis Delayed skeletal maturation Splenomegaly Dental malocclusion Abnormality of the skin Nail dysplasia Abnormality of the cardiovascular system Downturned corners of mouth Respiratory tract infection Neonatal hypotonia Wormian bones Abnormal heart morphology Hemivertebrae Blindness Abnormality of skin pigmentation Neoplasm Constipation Gingival overgrowth Cardiomyopathy Abnormality of the skeletal system Midface retrusion Hypertension Strabismus Hernia Patent ductus arteriosus Polydactyly Polyhydramnios Macrotia Joint hypermobility Protruding tongue Aplasia/Hypoplasia of the eyebrow Thickened skin Hemangioma Broad forehead Thick eyebrow Hyperpigmentation of the skin Cerebral cortical atrophy Gastroesophageal reflux Telecanthus Cavernous hemangioma Hyperextensibility of the finger joints Osteoporosis Large for gestational age Vesicoureteral reflux Narrow forehead Thick lower lip vermilion Recurrent respiratory infections Increased body weight Clinodactyly of the 5th finger Fine hair Congestive heart failure Spina bifida occulta Oligohydramnios Protruding ear Hypoplasia of the zygomatic bone Down-sloping shoulders Autism Diabetes mellitus Hypoplastic scapulae Hypermetropia Renal insufficiency Behavioral abnormality Hydronephrosis Chronic otitis media Ventricular septal defect Short clavicles Sleep apnea Cardiomegaly Hypertrichosis Open bite Microcephaly EEG abnormality Osteopenia Sparse eyebrow Hyperhidrosis Failure to thrive in infancy Prominent forehead Brittle hair Scaling skin Melanocytic nevus Bilateral ptosis Aggressive behavior Pleural effusion Ectropion Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Hydroureter Cubitus valgus Pectus excavatum Ventriculomegaly Hydrocephalus Atrial septal defect Kyphosis Curly hair Abnormality of cardiovascular system morphology Thrombocytopenia Depressivity Biparietal narrowing Multiple cafe-au-lait spots Inguinal hernia Abnormal heart valve morphology Long palpebral fissure Encephalopathy Abnormality of the sternum Neurofibromas Neurodevelopmental delay Abnormality of the eye Malnutrition Obsessive-compulsive behavior Heart murmur Redundant skin Relative macrocephaly Deep philtrum Premature birth Hepatic steatosis Sparse eyelashes Sleep disturbance Narrow palate Palmoplantar keratoderma Abnormality of the nail Abdominal distention Abnormal bleeding Nevus Intestinal malrotation Cerebral visual impairment Bruising susceptibility Webbed neck Lymphedema Growth hormone deficiency Progressive visual loss Cafe-au-lait spot Decreased body weight Inflammatory abnormality of the skin Hemiparesis Coarctation of aorta Low posterior hairline Myocardial infarction Retinal dystrophy Oculomotor apraxia Hyperextensible skin Neurological speech impairment Poor suck Feeding difficulties in infancy Abnormality of vision Palmoplantar hyperkeratosis Irritability Optic nerve hypoplasia Erythema Abnormal cardiac septum morphology Pectus carinatum Delayed gross motor development Leukemia Pruritus Cutis laxa Abnormality of the cerebral white matter Pulmonic stenosis Astigmatism Dry skin Abnormality of the genitourinary system Ichthyosis Peripheral axonal neuropathy Long face Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Falls Aspiration Abnormality of refraction Generalized hyperpigmentation Cystic hygroma Neonatal respiratory distress Precocious puberty Abnormality of the face Dehydration Generalized myoclonic seizures Joint laxity Intrauterine growth retardation Short uvula Fused teeth Short lingual frenulum Bilateral postaxial polydactyly Thoracic dysplasia Flat acetabular roof Agenesis of permanent teeth Shallow orbits Mesomelia Thoracic hypoplasia Polycystic kidney dysplasia Short long bone Short ribs Hydrops fetalis Bowing of the long bones Limb undergrowth Microdontia Ascites Renal cyst Postaxial polydactyly Pulmonary hypoplasia Prominent occiput Hypoplastic fingernail Oral cleft Broad hallux Absent nail of hallux Pseudoepiphysis of the thumb Tented philtrum Flat forehead Pseudoepiphyses Frontal upsweep of hair Small thenar eminence Thick nasal alae High anterior hairline Low hanging columella Short columella Poor eye contact Global brain atrophy Myopathic facies Abnormality of earlobe Adducted thumb Low anterior hairline Short thumb Broad thumb Wide intermamillary distance Wide nose Generalized tonic-clonic seizures Absent speech Abnormality of the placenta Labial hypertrophy Neonatal insulin-dependent diabetes mellitus Small anterior fontanelle Abdominal wall defect Hepatic failure Micromelia Submucous cleft hard palate Thick upper lip vermilion Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Dysarthria Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Abnormal hair pattern Woolly hair Excessive wrinkled skin Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Abnormality of the pulmonary artery Abnormality of hair texture Cleft lip Hyperkeratosis pilaris Syndactyly Respiratory insufficiency Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Tongue thrusting Multiple lentigines Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Dysphagia Short face Failure to thrive Severe sensorineural hearing impairment Clinodactyly Carious teeth Obesity Talipes equinovarus Hyperreflexia Spasticity Recurrent fractures Profound sensorineural hearing impairment Prominent nasal tip Cystic renal dysplasia Hypoplasia of the iris Sloping forehead Upslanted palpebral fissure Triphalangeal thumb Abnormal dermatoglyphics Abnormality of the fingernails Short phalanx of finger Hypsarrhythmia High myopia Dandy-Walker malformation Renal agenesis Abnormality of the ribs Polyneuropathy Everted lower lip vermilion Pneumonia Hypogonadism Sinusitis Narrow face Slender finger External genital hypoplasia Mild short stature Bilateral cryptorchidism Radial deviation of finger Encephalitis Tented upper lip vermilion Scrotal hypoplasia Infantile muscular hypotonia Drooling Widely spaced teeth Exotropia Hyperactivity Abnormality of the genital system Decreased testicular size Brachycephaly Paraplegia Abnormality of the foot Spastic paraplegia Microtia Skeletal dysplasia Thin upper lip vermilion Pes planus Kyphoscoliosis Micropenis Abnormality of epiphysis morphology Abnormality of the nervous system Facial hypotonia Stage 5 chronic kidney disease Schizophrenia Renal hypoplasia/aplasia Multicystic kidney dysplasia Horizontal nystagmus Sparse and thin eyebrow Recurrent urinary tract infections Sprengel anomaly Glossoptosis Highly arched eyebrow Short foot Short palm Facial asymmetry Language impairment Hearing abnormality Elevated hepatic transaminase Decreased skull ossification Dystrophic toenail Abnormality of the thumb Dimple chin Abnormal sacrum morphology Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Hypoplastic inferior ilia Shoulder muscle hypoplasia Neck muscle hypoplasia Focal impaired awareness seizure Unilateral renal agenesis Hyporeflexia Aplasia of the vagina Respiratory distress Abnormality of dental enamel Coxa vara Peripheral neuropathy Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Increased number of teeth Unicornuate uterus Pancreatic aplasia Pica Ureteral atresia Hypoplasia of the bladder Long fingers Abnormality of upper lip Ureterocele Hyperconvex nail Subcortical cerebral atrophy Urethral stenosis Hyperechogenic kidneys Long toe Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Shawl scrotum Abnormality of blood and blood-forming tissues Asplenia Nystagmus Hyperostosis Insulin-resistant diabetes mellitus Premature loss of teeth Arthropathy Prematurely aged appearance Spinal rigidity Reduced subcutaneous adipose tissue Hypermelanotic macule Delayed cranial suture closure High pitched voice Glucose intolerance Focal segmental glomerulosclerosis Hyperglycemia Progeroid facial appearance Cervical segmentation defect Congenital muscular dystrophy Glomerulosclerosis Hyperinsulinemia Lipodystrophy Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Osteolysis Insulin resistance Narrow nose Osteolytic defects of the phalanges of the hand Thin skin Osteolytic defects of the distal phalanges of the hand Ataxia Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Limb-girdle muscle atrophy Vertebral compression fractures Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Dental crowding Sparse scalp hair Lower limb hypertonia Hepatosplenomegaly Pericardial effusion Metaphyseal widening Growth abnormality Accelerated skeletal maturation Generalized hirsutism Nephrolithiasis Intellectual disability, profound Overgrowth Hirsutism Synophrys Congenital cataract Dyspnea Broad ribs Dilatation Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Aortic root aneurysm Thin bony cortex Hypertriglyceridemia Narrow mouth Epidermal acanthosis Nephrotic syndrome Convex nasal ridge Round face Sepsis Delayed puberty Muscular dystrophy Paralysis Joint stiffness Proximal muscle weakness Rigidity Myopathy Colpocephaly Flexion contracture Pain Muscle weakness Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Gingival fibromatosis Long penis Hypoplastic thumbnail


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Renal hypoplasia, related diseases and genetic alterations Hyperreflexia and Diabetes mellitus, related diseases and genetic alterations Macrocephaly and Acute leukemia, related diseases and genetic alterations