High palate, and Hypotrichosis

Diseases related with High palate and Hypotrichosis

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

Top matches:

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Other less relevant matches:

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

High match ROBERTS SYNDROME

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match YUNIS-VARON SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

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

Top 5 symptoms//phenotypes associated to High palate and Hypotrichosis

Symptoms // Phenotype % cases
Sparse hair Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Postnatal growth retardation

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Sparse scalp hair

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Proptosis

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Depressed nasal bridge Posteriorly rotated ears Neoplasm High, narrow palate Ventricular septal defect Abnormality of cardiovascular system morphology Scoliosis Atrial septal defect Abnormal facial shape Brachydactyly Microcephaly Failure to thrive Strabismus Anteverted nares Absent eyebrow Edema Pain Sparse eyebrow Myopia Aplasia/Hypoplasia of the eyebrow Intrauterine growth retardation Abnormality of the skeletal system Delayed skeletal maturation Hernia Short nose Epicanthus Thick lower lip vermilion Short neck Ptosis Delayed speech and language development Abnormal heart morphology Alopecia Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy High forehead Cardiomyopathy Hydrocephalus Macrocephaly Vomiting Dental malocclusion Polyhydramnios Eczema Low posterior hairline Pulmonic stenosis Webbed neck Growth hormone deficiency Dandy-Walker malformation Coarctation of aorta Failure to thrive in infancy Hypospadias Arnold-Chiari type I malformation Retrognathia Hyperpigmentation of the skin Abnormal cardiac septum morphology Muscular hypotonia Sparse eyelashes Dolichocephaly Clinodactyly Thrombocytopenia Wide intermamillary distance Umbilical hernia Gastroesophageal reflux Patent ductus arteriosus Pectus excavatum Dilatation Abnormality of the testis Premature birth Ventriculomegaly Coarse facial features Aggressive behavior Hemangioma Thin vermilion border Full cheeks Congestive heart failure Macrotia Brachycephaly Myocardial infarction Long philtrum Abnormality of the dentition Cleft palate Triangular face Sensorineural hearing impairment Frontal bossing Intellectual disability, mild Malar flattening

Rare Symptoms - Less than 30% cases

Hypoglycemia Pectus carinatum Flexion contracture Hypertension Hypogonadism Diabetes mellitus Accelerated skeletal maturation Hyperkeratosis Prominent interphalangeal joints Narrow mouth Micropenis Patent foramen ovale Hypothyroidism Abnormality of the kidney Dysarthria Low anterior hairline Hyperlipidemia Optic nerve hypoplasia Overfolded helix Abnormal hair pattern Arnold-Chiari malformation Relative macrocephaly Abnormal palate morphology Cafe-au-lait spot Abnormality of finger Hemiparesis Ventricular hypertrophy Ichthyosis Deep philtrum Anonychia Broad distal phalanx of finger Excessive wrinkled skin Paralysis Joint hypermobility Sandal gap Abnormality of digit Prominent forehead Scarring Microphthalmia Intestinal malrotation Aplasia/Hypoplasia of the clavicles Thick vermilion border Bulbous nose Astigmatism Respiratory tract infection Feeding difficulties in infancy Primary amenorrhea Fine hair Radial deviation of finger Hydronephrosis Clinodactyly of the 5th finger Inguinal hernia Craniosynostosis Kyphosis Behavioral abnormality Short thumb Falls Clitoral hypertrophy Wide cranial sutures Long eyelashes Large fontanelles Nail dystrophy Abnormality of skin pigmentation Short distal phalanx of finger Protruding ear Prominent nasal bridge Abnormality of the cardiovascular system Delayed puberty Thin skin Increased body weight Multiple lentigines Wormian bones Increased nuchal translucency Hypoplasia of the frontal lobes Subvalvular aortic stenosis Short clavicles Underdeveloped supraorbital ridges Aplasia/Hypoplasia of the thumb Absent thumb Short phalanx of finger Amenorrhea Neurodevelopmental delay Constipation Leukemia Thin upper lip vermilion Cognitive impairment Irritability Abdominal pain Abnormality of the pinna Short philtrum Abdominal distention Visual impairment Splenomegaly Severe global developmental delay Intellectual disability, severe Loose anagen hair Abnormal location of ears Superior pectus carinatum Bruising susceptibility Agenesis of corpus callosum Osteoporosis Coxa valga Hyperhidrosis Genu valgum Abnormality of blood and blood-forming tissues Depressivity Neurofibromas Amblyopia Sparse and thin eyebrow Cubitus valgus Lymphedema Elevated alkaline phosphatase Hepatomegaly Poor suck Respiratory distress Hypoplasia of the zygomatic bone Thick upper lip vermilion Hypoplasia of the corpus callosum Single transverse palmar crease Abnormal bleeding Autism Wide mouth Atopic dermatitis Thick eyebrow Glaucoma Insulin-resistant diabetes mellitus Small nail Enlarged cisterna magna Synophrys Redundant neck skin Broad nasal tip Cerebellar vermis hypoplasia Abnormality of refraction Cardiomegaly Thickened helices Autistic behavior Abnormality of the pulmonary artery Tetralogy of Fallot Slow-growing hair Wide nose Abnormality of the scapula Generalized hypotrichosis Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Broad secondary alveolar ridge Slender long bones with narrow diaphyses Short chin Pulmonary arterial hypertension Postductal coarctation of the aorta Absent sternal ossification Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Preductal coarctation of the aorta Short ribs Abnormal pelvis bone morphology Abnormality of dental structure Narrow nasal base Short toe Optic disc hypoplasia Lymphangioma Hypoplastic aortic arch Pachygyria Aplasia/Hypoplasia of the scapulae Amegakaryocytic thrombocytopenia Reduced factor XII activity Neurofibrosarcoma Nasogastric tube feeding Panuveitis Juvenile myelomonocytic leukemia Pectus excavatum of inferior sternum Abnormality of the occipital bone Gonadal neoplasm Reduced factor XIII activity Tented upper lip vermilion Abnormal parietal bone morphology Tapered toe Gingival recession Abnormality of pelvic girdle bone morphology Hypoplastic facial bones Severe failure to thrive Pyloric stenosis Hypoplastic labia majora Upslanted palpebral fissure Abnormality of dental morphology Sclerocornea Rocker bottom foot Hypodontia Metatarsus adductus Glossoptosis Decreased skull ossification Microtia Flared metaphysis Hip dislocation Short finger Toe syndactyly Hypopigmentation of the skin Inverted nipples Thin ribs Severe hearing impairment Hypoplastic scapulae Hydrops fetalis Aplasia/Hypoplasia of the nails Arrhinencephaly Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Tapered finger Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Neuronal loss in central nervous system Congenital microcephaly Abnormality of the urinary system Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Absent nipple Syndactyly Aplasia/Hypoplasia of the nipples Cerebellar hypoplasia Abnormality of the neck Short middle phalanx of finger Tall stature Aplasia/Hypoplasia of the proximal phalanx of the hallux Abnormal heart valve morphology Large for gestational age Open bite Malnutrition Hydroureter Infantile spasms Abnormality of the sternum Long palpebral fissure Multiple cafe-au-lait spots Heart murmur Biparietal narrowing Curly hair Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Poor appetite Alopecia of scalp Obsessive-compulsive behavior Chronic otitis media Enlarged kidney Delayed gross motor development Abnormality of the nail Narrow palate Oculomotor apraxia Cutis laxa Aplasia/Hypoplasia of the corpus callosum Sleep apnea Abnormality of the genitourinary system Palmoplantar hyperkeratosis Melanocytic nevus Abnormality of vision Hyperextensible skin Redundant skin Brittle hair Bilateral ptosis Scaling skin Pleural effusion Ectropion Abnormal eyelash morphology Absent eyelashes Cerebral visual impairment Abnormality of the hairline Patchy alopecia Optic nerve dysplasia Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Puberty and gonadal disorders Abnormality of the optic disc Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Multiple plantar creases Abnormal tricuspid valve morphology Anterior creases of earlobe Premature skin wrinkling Abnormal myocardium morphology Abnormality of the ulna Abnormality of the gastrointestinal tract Short attention span Woolly hair Dystrophic fingernails Abnormality of the optic nerve Delayed CNS myelination Deep palmar crease Frontal balding Gastrointestinal dysmotility Abnormal mitral valve morphology Abnormal aortic valve morphology Hyperextensibility of the finger joints Abnormality of hair texture Cavernous hemangioma Sparse or absent eyelashes Endocarditis Aspiration Thickened skin Aplasia of the distal phalanges of the hand Short sternum Ectopic kidney Partial agenesis of the corpus callosum Dislocated radial head Short 5th finger Tics Recurrent hypoglycemia Neoplasm of the liver Aplasia of the uterus Precocious puberty Rectal prolapse Patellar hypoplasia Aplasia/Hypoplasia of the patella Abnormality of the head Anterior pituitary hypoplasia Hypotrichosis of the scalp Generalized hypertrichosis Cutis marmorata Sacral dimple Hepatoblastoma Delayed eruption of teeth Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanx of the hallux Recurrent infections Recurrent respiratory infections Joint laxity Confusion Hirsutism Hypotelorism Spina bifida occulta Congenital diaphragmatic hernia Decreased fetal movement Renal hypoplasia Hypertrichosis Choanal atresia Preauricular skin tag Horseshoe kidney Generalized hirsutism Gastric ulcer Ectopic posterior pituitary Decreased body weight Retinal dystrophy Neurological speech impairment Pruritus Abnormality of the cerebral white matter Hypermetropia Dry skin Peripheral axonal neuropathy Long face Hepatic steatosis Abnormality of the eye Sleep disturbance Palmoplantar keratoderma Nevus Vesicoureteral reflux Progressive visual loss Narrow forehead Inflammatory abnormality of the skin Open mouth Erythema Telecanthus Duodenal ulcer Short distal phalanx of the 5th toe Intussusception Facial hypertrichosis Premature thelarche Severe expressive language delay Short distal phalanx of the 5th finger Hypoplastic fifth fingernail Lumbosacral hirsutism Ataxia EEG abnormality Optic atrophy Dysphagia Blindness Hypertonia Cerebral atrophy Encephalopathy Cerebral cortical atrophy Osteopenia Asymmetry of the thorax Hypomagnesemia Schwannoma Broad philtrum Myopathy Hypogonadotrophic hypogonadism Purpura Muscle weakness Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent eyelashes Curly eyelashes Clubbing of toes Thick nasal alae Eclabion Wide nasal base Broad columella Enlarged joints Premature ovarian insufficiency Hallucinations Short metatarsal Joint dislocation Narrow palpebral fissure Widely spaced teeth Drooling Mutism Abnormality of the metacarpal bones Cone-shaped epiphysis Echolalia Flat occiput Aphasia Dysphasia Narrow nasal bridge Protruding tongue Epileptic spasms Hypergonadotropic hypogonadism Rigidity Abnormality of epiphysis morphology Lipodystrophy Arthropathy Prematurely aged appearance Spinal rigidity Reduced subcutaneous adipose tissue Hypermelanotic macule Delayed cranial suture closure High pitched voice Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Hyperglycemia Congenital muscular dystrophy Glomerulosclerosis Hyperinsulinemia Dermal atrophy Proximal muscle weakness Nephrotic syndrome Joint stiffness Muscular dystrophy Sepsis Round face Abnormality of the skin Convex nasal ridge Epidermal acanthosis Atherosclerosis Hypertriglyceridemia Dental crowding Insulin resistance Choreoathetosis Osteolysis Acanthosis nigricans Absence seizures Broad-based gait Narrow nose Ectopia lentis Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Radial bowing Vitreoretinopathy Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Midface retrusion Irregular proximal tibial epiphyses Bifid uvula Arthralgia Platyspondyly Congenital cataract Flat face Retinal detachment Hypoplasia of the maxilla Ectodermal dysplasia Hypohidrosis Esotropia Otitis media Cerebral calcification High myopia Osteoarthritis Recurrent otitis media Macrodontia of permanent maxillary central incisor Irregular distal femoral epiphysis Short palpebral fissure Heart block Blepharophimosis Small for gestational age Poor speech Smooth philtrum Anodontia Short palm Everted lower lip vermilion Decreased serum estradiol Highly arched eyebrow Short metacarpal Autoimmune thrombocytopenia Specific learning disability Hypoplasia of the uterus Status epilepticus Decreased serum testosterone level Deeply set eye Wide tufts of distal phalanges Progressive extrapyramidal movement disorder Small proximal tibial epiphyses Meningeal calcification Small distal femoral epiphysis Wide nasal bridge Progressive alopecia Hypoplasia of the fallopian tube Decreased serum insulin-like growth factor 1 Abnormal T-wave Streak ovary Absent speech Increased thyroid-stimulating hormone level Obesity Abnormal spermatogenesis Severe short stature Premature loss of teeth Down-sloping shoulders Synovitis Hypocalcemia Hiatus hernia Abnormality of the elbow Broad neck Hyperreflexia Natal tooth Freckling Abnormality of coagulation Right bundle branch block Hypoplastic toenails Nasal speech Coarse hair Increased intracranial pressure Infantile muscular hypotonia Abnormality of the fingernails Hoarse voice Abnormally large globe Attention deficit hyperactivity disorder Sensory neuropathy Abnormality of movement Arthrogryposis multiplex congenita Camptodactyly Hyperactivity Mental deterioration Babinski sign Mitral regurgitation Abnormality of metabolism/homeostasis Carious teeth Dystonia Diarrhea Cyanosis Gait disturbance Fragile nails Peripheral pulmonary artery stenosis Prominent nose Myelodysplasia Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Pterygium Dermal translucency Rod-cone dystrophy Abnormality of the intervertebral disk Broad fingertip Abnormality of the nasal bridge Fever Headache Peripheral neuropathy Kyphoscoliosis Bicuspid aortic valve Broad forehead Facial asymmetry Clumsiness Left ventricular hypertrophy Plagiocephaly Azoospermia Polyneuropathy Premature separation of centromeric heterochromatin Progeroid facial appearance Foot pain Chest pain Cleft upper lip Finger syndactyly Corneal opacity Dehydration Bilateral sensorineural hearing impairment Abnormality of extrapyramidal motor function Psychosis Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Thin clavicles Blue sclerae Generalized lipodystrophy Osteolytic defects of the phalanges of the hand Vertebral compression fractures Calcinosis Prominent superficial veins Hypoplasia of teeth Narrow nasal ridge Breast aplasia Increased adipose tissue around the neck Hematemesis Loss of subcutaneous adipose tissue in limbs Mottled pigmentation Bird-like facies Limb-girdle muscle atrophy Osteolytic defects of the distal phalanges of the hand Underdeveloped nasal alae Bowing of the long bones Midface capillary hemangioma Wrist flexion contracture Fair hair Abnormality of the upper limb Patellar aplasia Long penis Phocomelia Humeroradial synostosis Aplasia of the ulna Capillary hemangioma Complete duplication of thumb phalanx Facial hemangioma Absent earlobe Progressive flexion contractures Mesomelic arm shortening Tetraphocomelia Low hanging columella Upper limb undergrowth Aortic valve stenosis Polycystic kidney dysplasia Bilateral single transverse palmar creases Knee flexion contracture Opacification of the corneal stroma Decreased testicular size Melanoma Hypoplasia of the radius Radioulnar synostosis Severe intrauterine growth retardation Proximal placement of thumb Short femoral neck Hip contracture Absent radius Synostosis of carpal bones External ear malformation Oral aversion


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