Fever, and Renal hypoplasia

Diseases related with Fever and Renal hypoplasia

In the following list you will find some of the most common rare diseases related to Fever and Renal hypoplasia that can help you solving undiagnosed cases.

Top matches:

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Other less relevant matches:

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

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

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Top 5 symptoms//phenotypes associated to Fever and Renal hypoplasia

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Renal hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Abnormal heart morphology

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Renal agenesis

Common Symptoms - More than 50% cases

Toe syndactyly

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia

Common Symptoms - More than 50% cases

Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Syndactyly Abnormality of the urinary system Ptosis Polydactyly Failure to thrive Hydrocephalus Micropenis Generalized hypotonia Short neck Retrognathia Abnormality of the kidney Oligohydramnios Patent ductus arteriosus Abnormality of cardiovascular system morphology Recurrent infections Renal dysplasia Hernia Tetralogy of Fallot Severe short stature Hip dislocation Small for gestational age Proptosis Hypothyroidism Abnormality of the genital system Abnormality of the pinna Abnormality of the skeletal system Nystagmus Coarctation of aorta Intrauterine growth retardation Strabismus Hypospadias Thrombocytopenia Behavioral abnormality Clinodactyly of the 5th finger Conductive hearing impairment Blepharophimosis Intellectual disability, severe Hypoplasia of the corpus callosum Bulbous nose Choanal atresia Anemia Brachydactyly Anal atresia Perimembranous ventricular septal defect Specific learning disability Hypertonia Hydronephrosis Glaucoma Delayed speech and language development Immunodeficiency Anteverted nares Unilateral renal agenesis Bifid uvula Renal hypoplasia/aplasia Preaxial polydactyly Hyperactivity Aggressive behavior Telecanthus Astigmatism Cleft upper lip Pulmonary hypoplasia Vesicoureteral reflux Hydroureter Low posterior hairline Pyloric stenosis Abnormality of the metacarpal bones Postnatal growth retardation Hypoplastic nipples Short thumb Cataract Epicanthus Microphthalmia Upslanted palpebral fissure Postaxial polydactyly Renal cyst Micromelia Split hand Microtia Muscular hypotonia Neoplasm Cleft lip 2-3 toe syndactyly Delayed skeletal maturation Obesity Meningocele Clinodactyly Bicuspid aortic valve Malar flattening Umbilical hernia Hand polydactyly Duodenal stenosis Abnormality of the dentition Spina bifida Depressed nasal bridge Wide nasal bridge Short palpebral fissure Pulmonic stenosis Sensorineural hearing impairment Ataxia Cognitive impairment Flexion contracture

Rare Symptoms - Less than 30% cases

High, narrow palate Highly arched eyebrow Sleep disturbance Seborrheic dermatitis Aplasia of the uterus Webbed neck Microdontia Myelomeningocele Congenital diaphragmatic hernia Juvenile rheumatoid arthritis Graves disease Truncus arteriosus Recurrent urinary tract infections Hypoplasia of the radius Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Self-injurious behavior Proximal placement of thumb Vertigo Impaired T cell function Prominent nasal bridge Conotruncal defect Sacral meningocele Right aortic arch with mirror image branching Feeding difficulties Hypertension Optic atrophy Talipes equinovarus Arteria lusoria Vomiting Aplasia of the thymus Long philtrum Headache Retinal vascular tortuosity Craniosynostosis Hyperhidrosis Narrow mouth Autism Mandibular prognathia Gastroesophageal reflux Hypoglycemia Ectopic kidney Right aortic arch Hypertrophic cardiomyopathy Interrupted aortic arch Camptodactyly Autistic behavior Cutis marmorata Absent hand Abnormality of digit Bifid scrotum Abnormality of the uterus Aganglionic megacolon Absent radius Anal stenosis Multicystic kidney dysplasia Hypoplasia of the ulna Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Absent speech Frontal bossing Duplicated collecting system Hypoplasia of the thymus Biparietal narrowing Autoimmunity Sparse axillary hair Aplasia/Hypoplasia of the radius Growth hormone deficiency Broad nasal tip Hypodontia Bicornuate uterus Abnormal renal morphology Abnormal localization of kidney Gastroschisis Oral cleft Abnormality of the foot Short philtrum Arthritis Hemolytic anemia Posterior embryotoxon Arnold-Chiari malformation Oligodactyly Ectrodactyly Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Acne Ventriculomegaly Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Nasal speech Schizophrenia Low-set, posteriorly rotated ears Chorea Feeding difficulties in infancy Attention deficit hyperactivity disorder Finger syndactyly Purpura Hypocalcemia Iris coloboma Hypopigmentation of the skin Primary amenorrhea Dandy-Walker malformation Amenorrhea Peripheral demyelination Postaxial hand polydactyly Hypoplasia of penis Sclerocornea Amblyopia Premature birth Arrhythmia Short metatarsal Long nose Tachycardia Abnormal form of the vertebral bodies Facial asymmetry Elbow flexion contracture Short femur Abnormality of finger Thin upper lip vermilion Sparse eyelashes Severe intrauterine growth retardation Sparse scalp hair Submucous cleft hard palate Depressivity Short humerus Hyperkeratosis Spasticity Downslanted palpebral fissures Congestive heart failure Respiratory distress Hypogonadism Hyperkalemia Sparse and thin eyebrow Skeletal dysplasia Short palm Hyperthyroidism Delayed eruption of teeth Dolichocephaly Agenesis of corpus callosum Apnea Short chin Cerebellar hypoplasia Polymicrogyria Short metacarpal Oligodontia Single transverse palmar crease Abnormality of the nervous system Hypoplasia of the maxilla Triangular face Partial agenesis of the corpus callosum Limb undergrowth Cerebellar vermis hypoplasia Small hand Sloping forehead Alopecia Hypoplasia of the frontal lobes Aplasia of the pectoralis major muscle Absent axillary hair Deformed radius Long uvula Aplasia of the ulna Short 5th toe Aplasia/Hypoplasia of the ulna Ectopic posterior pituitary Imperforate hymen Laryngeal stenosis Abnormality of temperature regulation Laryngeal web Abnormality of the radius Abnormal external genitalia Body odor Short 4th toe Hernia of the abdominal wall Congenital cataract Axillary apocrine gland hypoplasia Psychosis Dysdiadochokinesis Cardiac arrest Abnormality of the hand Scapular winging Ventricular tachycardia Narrow palpebral fissure Ventricular arrhythmia Growth abnormality Hallucinations Open mouth Hypokalemia Unilateral oligodactyly Underdeveloped nasal alae Myotonia Preauricular pit Dysmetria Loss of consciousness Mental deterioration Anxiety High pitched voice Dementia Cerebellar atrophy Broad eyebrow Breast hypoplasia Subglottic stenosis Abnormal oral frenulum morphology Abnormal retinal morphology Tibial bowing Hamartoma Foot polydactyly Preaxial foot polydactyly Accessory oral frenulum Lobulated tongue Abnormality of neuronal migration Hamartoma of tongue Tongue nodules Mesoaxial polydactyly Episodic tachypnea Hypothalamic hamartoma Bulimia Hypoplasia of olfactory tract Molar tooth sign on MRI Preaxial hand polydactyly Occipital meningocele Abnormal cerebellum morphology Slow-growing scalp hair Tremor Gait disturbance Periodic paralysis Dilatation Scaphocephaly Long face Esotropia Bilateral cryptorchidism Apraxia Finger clinodactyly Oculomotor apraxia Tachypnea Polycystic kidney dysplasia Trigonocephaly Radial deviation of finger Mesoaxial hand polydactyly Y-shaped metacarpals Breast aplasia Sparse lateral eyebrow Sprengel anomaly Abnormality of the clavicle Hypoplastic scapulae Abnormality of the wrist Ectopic anus Supraventricular tachycardia Wolff-Parkinson-White syndrome Inverted nipples Prolonged QT interval Broad face Gonadotropin deficiency Decreased body weight Wide nasal base Abnormality of the humerus Anterior pituitary hypoplasia Short clavicles Shawl scrotum Midline notch of upper alveolar ridge Round face Central Y-shaped metacarpal Abnormal heart valve morphology Camptodactyly of finger Pectus carinatum Delayed puberty Short distal phalanx of finger Wide nose Convex nasal ridge Agenesis of permanent teeth Interphalangeal joint contracture of finger Abnormality of the fingernails Laryngomalacia Hypoplastic toenails Slender long bone External genital hypoplasia Decreased fertility Short phalanx of finger Enlarged metaphyses Apathy Myelodysplasia Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage External ear malformation Irregular hyperpigmentation Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Squamous cell carcinoma Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia B-cell lymphoma Bone marrow hypocellularity Pancytopenia Telangiectasia Cafe-au-lait spot Insulin resistance Abnormal vertebral morphology Hypergonadotropic hypogonadism Horseshoe kidney Abnormality of vision Type I diabetes mellitus Leukopenia Azoospermia Cranial nerve paralysis Hypopigmented skin patches Reduced bone mineral density Arteriovenous malformation Abnormality of the upper limb Neutropenia Clubbing of toes Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Aplastic anemia Abnormality of chromosome stability Abnormality of the testis Abnormality of the thumb Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Reticulocytopenia Complete duplication of thumb phalanx Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Lymphoma Bruising susceptibility Obsessive-compulsive behavior Pulmonary artery atresia Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Giant platelets Paranoia Gait ataxia Joint laxity Mood swings Platybasia Paralysis Broad forehead Abnormality of the endocrine system Muscle weakness Tetraparesis Hypoplasia of dental enamel Hypoplasia of the brainstem Palpitations Myopathic facies Abnormality of the ear Basal ganglia calcification Axonal loss Echolalia Syncope Transverse vaginal septum Short foot Delusions Pierre-Robin sequence Inability to walk Pain Unilateral lung agenesis Abnormality of skin pigmentation Type I truncus arteriosus Leukemia Abnormal cardiac septum morphology Abnormality of the liver Irritability Abnormality of the eye Carcinoma Pes planus Weight loss Diabetes mellitus Renal insufficiency Fatigue Hyperreflexia Hepatomegaly Visual impairment Parathyroid agenesis Unilateral primary pulmonary dysgenesis Alcoholism Generalized tonic-clonic seizures Broad thumb Exotropia Tetany Anterior segment developmental abnormality Femoral hernia Perisylvian polymicrogyria Parathyroid hypoplasia Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Esophoria Accommodative esotropia Decreased circulating parathyroid hormone level Absence of Stensen duct Rectovaginal fistula Abnormal salivary gland morphology Weak cry Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Bilateral single transverse palmar creases Muscle stiffness Dislocated radial head Knee flexion contracture Short sternum Elbow dislocation Torticollis Widely spaced teeth Relative macrocephaly Rickets Incoordination Deep philtrum Sacral dimple Limited elbow extension Lissencephaly Clubbing Tricuspid regurgitation Short middle phalanx of finger Absence seizures Opisthotonus Peters anomaly Hand oligodactyly Increased body weight Heterotopia Prominent nose Wide mouth Intellectual disability, moderate Polyhydramnios Hypsarrhythmia Constipation Status epilepticus Fine hair Short nose Kyphosis Diarrhea Edema Abnormality of the metaphysis Pachygyria Dysplastic tricuspid valve Phocomelia Hypertropia Supernumerary ribs Gastroparesis Bowing of the long bones Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Left-to-right shunt Hypoplastic radial head Projectile vomiting Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Spontaneous abortion Low anterior hairline Thick vermilion border Abnormality of the intervertebral disk Agenesis of cerebellar vermis Profound global developmental delay Brachycephaly Colpocephaly Prominent forehead Pneumonia Thin eyebrow Abnormality of the upper urinary tract Broad distal phalanx of finger Tethered cord Aplastic clavicle Long clavicles Central hypothyroidism Abnormally ossified vertebrae Cardiomyopathy Abnormal cortical gyration Abnormality of the pubic bone Cleft vertebral arch Bifid first metacarpal Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the distal phalanx of finger Small anterior fontanelle Loss of eyelashes Abnormality of calcium-phosphate metabolism Myopia Macrocephaly Large iliac wings Aplasia/hypoplasia of the femur 11 pairs of ribs Hypoplastic ilia Aspiration Prominent occiput Prolonged neonatal jaundice Microcornea Sepsis Cortical gyral simplification Otitis media Femoral bowing High myopia Disproportionate short stature Blue sclerae Multiple joint contractures Hypertrichosis Diabetes insipidus Large hands Long eyelashes Tapered finger Broad palm Long foot Arachnoid cyst Proteinuria Flat acetabular roof Delayed epiphyseal ossification Thickened nuchal skin fold Respiratory tract infection Pallor Epileptic spasms Downturned corners of mouth Synophrys Hip contracture Thin vermilion border Thick eyebrow Osteomalacia Hirsutism Delayed myelination Intestinal malrotation Urethral atresia Respiratory insufficiency Periodic hypokalemic paresis Omphalocele Thin skin Nail dysplasia Short mandibular rami Ectodermal dysplasia Periodic hyperkalemic paralysis Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Prominent U wave Carious teeth Photophobia Recurrent respiratory infections Elevated 7-dehydrocholesterol Hypogonadotrophic hypogonadism Periventricular gray matter heterotopia Broad alveolar ridges Mesomelic short stature Median cleft palate Hip subluxation Increased serum testosterone level Talipes calcaneovalgus Abnormality of the gallbladder Abnormality of limbs Septate vagina Sleep-wake cycle disturbance Alveolar ridge overgrowth Severe photosensitivity Opsoclonus Facial capillary hemangioma Hypohidrosis Conjunctivitis Increased nuchal translucency Dysuria Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Persistence of primary teeth Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Delayed eruption of permanent teeth Sparse pubic hair Absent knee epiphyses Heat intolerance Abnormality of the genitourinary system Blepharitis Clinodactyly of the 5th toe Keratitis Epiphora Absent septum pellucidum Hypopituitarism Xerostomia Split foot Toe clinodactyly Bilateral cleft lip Depressed nasal tip Blue irides Fair hair Anodontia Generalized hypopigmentation Cerebral atrophy Ectopic calcification Wide intermamillary distance Gingival overgrowth Clitoral hypertrophy Hyponatremia Precocious puberty Poor suck Reduced number of teeth Optic nerve hypoplasia Osteopenia Scrotal hypoplasia Abnormal dermatoglyphics Hypercholesterolemia Rigidity Abnormality of dental enamel Hyperbilirubinemia Short toe Rhizomelia Dyspnea Decreased fetal movement Dry skin Hypotrichosis Platyspondyly Narrow forehead Eczema Ambiguous genitalia Abnormality of the ribs Muscular hypotonia of the trunk Intellectual disability, profound Cutaneous photosensitivity Recurrent otitis media Corneal opacity Sparse hair Dental crowding Hammertoe Aplasia/Hypoplasia of the cerebellum Ureteropelvic junction obstruction Breech presentation Osteoporosis Tracheal stenosis Excessive daytime somnolence Sex reversal Overlapping fingers Bifid tongue Cholestatic liver disease Microglossia Abnormality of the larynx Gastrointestinal dysmotility Aplasia/Hypoplasia affecting the eye Hypocholesterolemia Decreased circulating aldosterone level Advanced eruption of teeth Severe failure to thrive Male pseudohermaphroditism Abnormality of dental morphology Increased number of teeth Metatarsus adductus Overlapping toe Adrenal insufficiency Mesomelia Atrioventricular canal defect Respiratory failure Ulnar deviation of finger Postaxial foot polydactyly Hypopigmentation of hair Epiphyseal stippling Abnormal lung lobation Abnormal eyelash morphology Upper limb undergrowth Self-mutilation Abnormality of the preputium


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Inguinal hernia, related diseases and genetic alterations Microphthalmia and Depressed nasal ridge, related diseases and genetic alterations