Abnormal facial shape, and Azoospermia

Diseases related with Abnormal facial shape and Azoospermia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Azoospermia that can help you solving undiagnosed cases.


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Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

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Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match NOONAN SYNDROME 1; NS1


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

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Low 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

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Azoospermia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Azoospermia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anemia Cryptorchidism Cataract Ptosis Seizures Microcephaly Cardiomyopathy Abnormality of the dentition Thrombocytopenia Severe short stature Fever Postnatal growth retardation Diabetes mellitus Intellectual disability Facial asymmetry Micrognathia Failure to thrive Pneumonia Congestive heart failure Decreased testicular size Deeply set eye Hip dislocation Dolichocephaly Hypergonadotropic hypogonadism Intrauterine growth retardation Cognitive impairment Neoplasm Intellectual disability, mild Ataxia Leukemia High pitched voice Lymphoma Generalized hypotonia Abnormality of the kidney Renal insufficiency Frontal bossing Scoliosis Brachydactyly Hypothyroidism Ventriculomegaly Telangiectasia Headache Clinodactyly Type II diabetes mellitus Posteriorly rotated ears Depressed nasal bridge Hearing impairment Malabsorption Low-set ears Ichthyosis Atrial septal defect Abnormal cardiac septum morphology Gynecomastia Epicanthus Delayed puberty Abnormal heart morphology Proptosis Low-set, posteriorly rotated ears Patent ductus arteriosus Strabismus Long philtrum Nystagmus High palate Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Edema Acute myeloid leukemia Myeloid leukemia Chromosome breakage Squamous cell carcinoma Reduced number of teeth Abnormality of chromosome stability Leukocytosis Abnormality of blood and blood-forming tissues Hypertrichosis Hypopigmented skin patches Cafe-au-lait spot Bronchiectasis Ventricular septal defect Feeding difficulties Infertility Pain Finger syndactyly Protruding ear Recurrent respiratory infections Delayed skeletal maturation Recurrent infections Immunodeficiency Diarrhea Multiple lentigines Myelodysplasia Wide intermamillary distance Splenomegaly Plagiocephaly Bone marrow hypocellularity Corneal opacity Abnormal bleeding Platyspondyly Astigmatism Abnormality of skin pigmentation Abnormality of epiphysis morphology Hyperlipidemia Neutropenia Abnormal cerebellum morphology Amblyopia Primary amenorrhea Amenorrhea Fine hair Proteinuria Reduced bone mineral density B-cell lymphoma Constipation Abnormality of cardiovascular system morphology Myopia Hernia Short neck Vomiting Kyphosis Glomerulopathy Bruising susceptibility Multiple cafe-au-lait spots Gastroesophageal reflux Hypertrophic cardiomyopathy Glomerulonephritis Thin upper lip vermilion Hypotrichosis Motor delay Clinodactyly of the 5th finger Moyamoya phenomenon Osteopenia Prominent nose Pes planus Testicular atrophy Growth hormone deficiency Type I diabetes mellitus Long face Aspiration Carious teeth Small for gestational age Umbilical hernia Sparse hair Visual impairment Developmental regression Hypertension Abnormal renal morphology Abnormality of the foot Mandibular prognathia Short nose Retrognathia Anteverted nares Upslanted palpebral fissure Stroke Recurrent fractures Broad finger Full cheeks Hyporeflexia Areflexia Microphthalmia Waddling gait Triangular face Small hand Aspiration pneumonia Hyperreflexia Renal agenesis Reticulocytopenia Abnormality of the eye Hydrocephalus Micropenis Oligospermia Irritability Hepatomegaly Hypoplastic pelvis Gingival overgrowth Dental crowding Cleft palate Abnormal joint morphology Hypophosphatemia Buphthalmos Dysphasia Generalized hypopigmentation Osteomalacia Hyperphosphaturia Histiocytosis Blindness Skin nodule Atelectasis Respiratory insufficiency Pathologic fracture Congenital glaucoma Hyperparathyroidism Panniculitis Chronic rhinitis Cervical lymphadenopathy Periodontitis Myelofibrosis Hyperaldosteronism Episcleritis Generalized lymphadenopathy Gingivitis Atypical scarring of skin Snoring Taurodontia Stiff skin Bilateral camptodactyly Facial telangiectasia Patellar dislocation Upper eyelid edema Multiple renal cysts Corneal arcus Retroperitoneal fibrosis Hyperplasia of the maxilla Joint swelling Pancreatic hypoplasia Renal tubular acidosis Seborrheic keratosis Renal tubular dysfunction Abnormality of cardiovascular system physiology Joint hypermobility Behavioral abnormality Abnormality of the ribs Stereotypy Aggressive behavior Intellectual disability, moderate Nephrolithiasis Hypoplasia of dental enamel Subcutaneous nodule Feeding difficulties in infancy Abnormality of the metaphysis Open mouth Osteoarthritis Sparse scalp hair Dehydration Skin ulcer Joint stiffness Aciduria Increased serum lactate Camptodactyly of finger Delayed eruption of teeth Metabolic acidosis Attention deficit hyperactivity disorder Lacrimation abnormality Congenital cataract Genu valgum Everted lower lip vermilion Hematuria Clonus Joint contracture of the hand Open bite EEG abnormality Depressivity Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Inguinal hernia Joint hyperflexibility Chronic otitis media Glaucoma Reduced visual acuity Self-injurious behavior Acidosis Rickets Nephrocalcinosis Abnormality of the voice Hypokalemia Hypercalciuria Deep philtrum Neonatal hypotonia Hypercholesterolemia Neoplasm of the skin Abnormality of dental enamel Aminoaciduria Arthritis Anxiety Narrow palate Abnormal pupil morphology Abnormality of vision Abnormality of the renal tubule Pyridoxine-responsive sideroblastic anemia Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Abnormality of the preputium Almond-shaped palpebral fissure Muscle weakness Muscular hypotonia Peripheral neuropathy Dysarthria Skeletal muscle atrophy Tremor Gait disturbance Abnormal carotid artery morphology Compensated hypothyroidism Myopathy Meckel diverticulum Abnormal localization of kidney Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Duodenal stenosis Duplicated collecting system Low-grade fever Absent testis Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Dysphagia Elevated serum creatine phosphokinase Abnormality of the hypothalamus-pituitary axis Kinetic tremor Abnormality of lipid metabolism Overweight Abnormality of the mouth Hand tremor Bulbar signs Distal lower limb amyotrophy Hyperlipoproteinemia Muscle fibrillation Decreased LDL cholesterol concentration Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Erectile abnormalities Laryngospasm Axonal loss Bulbar palsy Difficulty walking Intention tremor Proximal muscle weakness Myalgia Muscular dystrophy Limb muscle weakness Sensory neuropathy Neurodegeneration Muscle cramps Progressive muscle weakness Decreased fertility Fasciculations Dysphonia Limb-girdle muscular dystrophy Spinal muscular atrophy Calf muscle hypertrophy Amyotrophic lateral sclerosis Impotence Abnormal aortic valve morphology Acute monocytic leukemia Cheilitis Weight loss Hypoammonemia Dense posterior cortical cataract Fatigue Abnormality of the skeletal system Respiratory distress Hypospadias Carcinoma Lentiglobus Abnormality of the liver Toe syndactyly Anal atresia Vertigo Hypopigmentation of the skin Tetralogy of Fallot Sloping forehead Wrist swelling Abnormality of dentin Pancytopenia Chorioretinal dysplasia Keloids Renal Fanconi syndrome Urogenital fistula Proximal renal tubular acidosis Vitamin D deficiency Oligosacchariduria Abnormality of calcium-phosphate metabolism Bicarbonaturia Elevated serum acid phosphatase Benign neoplasm of the central nervous system Periventricular cysts Elevated amniotic fluid alpha-fetoprotein Finger swelling Odontogenic neoplasm Elevated maternal serum alpha-fetoprotein Oligohydramnios Short palpebral fissure Abnormality of femur morphology Abnormal eyelid morphology Absent thumb Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation External ear malformation Hearing abnormality Abnormality of the ulna Ectopic kidney Arteriovenous malformation Abnormality of the upper limb Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Bicornuate uterus Hydroureter Hypoplasia of the ulna Choanal atresia Horseshoe kidney Abnormality of the genital system Aganglionic megacolon Recurrent urinary tract infections Short thumb Insulin resistance Abnormal vertebral morphology Spina bifida Leukopenia Glucose intolerance Cranial nerve paralysis Renal hypoplasia/aplasia Recurrent pharyngitis Abnormality of the urinary system Hyperinsulinemia Triphalangeal thumb Tracheoesophageal fistula Nasal obstruction Neuroblastoma Decreased serum testosterone level Acute leukemia Cerebellar atrophy Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplasia of the zygomatic bone IgG deficiency Hyperlordosis Hodgkin lymphoma IgA deficiency Telangiectasia of the skin Pulmonary fibrosis Hand polydactyly Sacral dimple Narrow face Sinusitis Abnormality of the face Cutaneous photosensitivity Specific learning disability Otitis media Abnormality of the skin Decreased antibody level in blood Dementia Scarring Erythema Opacification of the corneal stroma Hypermelanotic macule Combined immunodeficiency Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Atherosclerosis Lymphopenia Autoimmunity Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Premature birth Migraine Brain atrophy Gliosis Nephropathy Bulbous nose Stage 5 chronic kidney disease Skin rash Polydactyly Protuberant abdomen Bilateral renal agenesis Premature graying of hair Cerebral hemorrhage Short phalanx of finger Wide nose Dilated cardiomyopathy Total anosmia Leydig cell insensitivity to gonadotropin Decreased circulating follicle stimulating hormone level Hypothalamic gonadotropin-releasing hormone deficiency Olfactory lobe agenesis Decreased circulating luteinizing hormone level Alobar holoprosencephaly Eunuchoid habitus Bimanual synkinesia Abnormal left ventricle morphology Microphallus Hyposmia Sparse pubic hair Anodontia Bilateral cryptorchidism Unilateral renal agenesis Anosmia Holoprosencephaly Hypogonadotrophic hypogonadism Hypotelorism Oral cleft Abnormality of eye movement Cleft lip Pes cavus Stroke-like episode Congenital ptosis Hyperhidrosis Widely spaced teeth Syndactyly Malar flattening Hypoplastic sacrum Frontal balding Clitoral hypoplasia Breast hypoplasia Low hanging columella Disproportionate short stature Short finger Agenesis of permanent teeth Short femoral neck Cone-shaped epiphysis Short metatarsal Relative macrocephaly Pointed chin Abnormality of the nares Small nail Nail dysplasia Short metacarpal Broad nasal tip Downturned corners of mouth Short distal phalanx of finger Severe global developmental delay Microtia Wide mouth High forehead Prominent forehead Midface retrusion Macrocephaly Abnormal hand morphology Steatorrhea Abnormality of the vasculature Communicating hydrocephalus Nasogastric tube feeding Pectus carinatum Retinopathy Apnea Camptodactyly Conductive hearing impairment Hepatosplenomegaly Dyspnea Hyperkeratosis Alopecia Wide nasal bridge Flexion contracture Postductal coarctation of the aorta Preductal coarctation of the aorta Reduced factor XIII activity Cleft upper lip Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Lymphadenopathy Flat face Shield chest Hyperglycemia Varicose veins Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Stridor Polyneuropathy Psoriasiform dermatitis Lipodystrophy Sleep apnea Osteolysis Elbow flexion contracture Hyperpigmentation of the skin Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Synovitis Restrictive cardiomyopathy Transient ischemic attack Shallow acetabular fossae Abdominal pain Rod-cone dystrophy Pectus excavatum Dilatation Downslanted palpebral fissures Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Steroid-resistant nephrotic syndrome Kyphoscoliosis Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Polyhydramnios Broad forehead Atrial flutter Failure to thrive in infancy Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Patent foramen ovale Elevated alkaline phosphatase Pulmonic stenosis Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Lymphedema Left ventricular hypertrophy Clumsiness Low posterior hairline Ventricular hypertrophy Coarctation of aorta Webbed neck Dental malocclusion Abdominal distention High, narrow palate Proximal spinal muscular atrophy



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