Anemia, and Hip dysplasia

Diseases related with Anemia and Hip dysplasia

In the following list you will find some of the most common rare diseases related to Anemia and Hip dysplasia that can help you solving undiagnosed cases.


Top matches:

Medium match ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A


CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

Medium match HEREDITARY OROTIC ACIDURIA


Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Medium match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

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Other less relevant matches:

Medium match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Medium match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Medium match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Anemia and Hip dysplasia

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

Patients with Anemia and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Ptosis Macrocephaly Feeding difficulties Hypertelorism Hearing impairment Failure to thrive Downslanted palpebral fissures Atrial septal defect Low-set ears Cryptorchidism Sensorineural hearing impairment Ventriculomegaly High forehead Gait disturbance Microcephaly Myopathy Scoliosis Prominent nasal bridge Areflexia Respiratory distress Dysphagia Anteverted nares Pectus excavatum Inguinal hernia Developmental regression Skeletal muscle atrophy Diarrhea Muscular hypotonia Abnormal bleeding Polyhydramnios Hypoplasia of the corpus callosum Flexion contracture Abnormal facial shape Arthrogryposis multiplex congenita Micrognathia Vomiting Hepatosplenomegaly Splenomegaly Immunodeficiency Abnormality of the liver Cholelithiasis Hypertension Wide nasal bridge

Rare Symptoms - Less than 30% cases


Cerebral calcification Cerebral atrophy Cerebral cortical atrophy Thrombocytopenia Facial diplegia Hydrops fetalis Retrognathia Aggressive behavior Malabsorption Mask-like facies Cerebellar atrophy Intrauterine growth retardation Talipes equinovarus Decreased fetal movement Hepatomegaly Epicanthus Type II diabetes mellitus Hemiparesis Fine hair Cafe-au-lait spot Abnormality of the renal tubule Hypochromic microcytic anemia Truncal obesity Ataxia Severe postnatal growth retardation Cataract Ophthalmoparesis Headache Abnormality of the dentition Edema Cognitive impairment Ophthalmoplegia EMG abnormality Motor delay Apnea Optic atrophy Dyspnea Short neck Cardiomyopathy Midface retrusion Ventricular septal defect Hydrocephalus Respiratory insufficiency Atrioventricular block Fatigue Syndactyly Jaundice Muscle weakness External ophthalmoplegia Gastroesophageal reflux Joint laxity Proximal tubulopathy Feeding difficulties in infancy Neurodevelopmental delay Postnatal growth retardation Peripheral neuropathy Hypermetropia Bilateral ptosis Basal ganglia calcification Abnormality of the skeletal system Upslanted palpebral fissure Gait ataxia Hypoparathyroidism Autism Hypoplasia of dental enamel Mitral regurgitation Low posterior hairline Macrotia Webbed neck Dental malocclusion Protruding ear Broad forehead Osteopenia Brachycephaly Congenital cataract Hypogonadism Patent ductus arteriosus Long philtrum Recurrent respiratory infections Low-set, posteriorly rotated ears Myopia High palate Delayed skeletal maturation Hypopigmented skin patches Narrow chest Clonus Short distal phalanx of finger Impaired T cell function Sparse scalp hair Diabetes mellitus Hypothyroidism Osteoporosis Cholestasis Narrow mouth Recurrent infections Kyphosis Intellectual disability, mild Renal insufficiency Poikilocytosis Stroke Attention deficit hyperactivity disorder Hepatitis Anisocytosis Schizophrenia Hypochromic anemia Hypertonia Chronic diarrhea Paresthesia Anal atresia Nausea and vomiting Rod-cone dystrophy Delayed puberty Constipation Dementia Dysmetria Myoclonus Abdominal pain Abnormal cerebellum morphology Polyneuropathy Muscle cramps Carious teeth Coma Postural instability Ichthyosis Lethargy Weight loss Proteinuria Pruritus Nausea Neurological speech impairment Nyctalopia Lactic acidosis Erythema Abnormality of the pinna Mental deterioration Hypertrophic cardiomyopathy Confusion Anxiety Acidosis Generalized tonic-clonic seizures Peripheral axonal neuropathy Myalgia EEG abnormality Photophobia Polymicrogyria Hirsutism Nephropathy Dilated cardiomyopathy Vertigo Cerebellar hypoplasia Pain Elevated serum creatine phosphokinase Coxa valga Radial bowing Increased intraocular pressure Hypoplastic iliac wing Tracheal stenosis Narrow palpebral fissure Coxa vara Abnormality of epiphysis morphology Dilatation of the cerebral artery Abnormality of the metaphysis Hypoplastic scapulae Short 1st metacarpal Abnormality of the cerebral vasculature Aplasia/Hypoplasia of the earlobes Arterial stenosis Severe intrauterine growth retardation Proportionate short stature Ulnar bowing Flared metaphysis Reduced number of teeth Nasal speech Precocious puberty Cone-shaped epiphysis Abnormality of dental morphology Short middle phalanx of finger Laryngomalacia Multiple cafe-au-lait spots Acanthosis nigricans High pitched voice Aplasia/Hypoplasia of the eyebrow Limited elbow extension Tibial bowing Slender long bone Disproportionate short stature Long clavicles Shortening of all distal phalanges of the fingers Hyporeflexia Fever Limb undergrowth Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Nystagmus Visual impairment Hyperreflexia Dysarthria Tremor Alveolar process hypoplasia Blindness Congestive heart failure Dystonia Depressivity Encephalopathy Visual loss Arrhythmia Rootless teeth Overtubulated long bones Abnormality of female external genitalia Thin clavicles Narrow pelvis bone Large sella turcica Pseudoepiphyses Forearm undergrowth Pseudoepiphyses of the metacarpals Distal symphalangism Epidermal acanthosis Generalized microdontia Sloping forehead Moyamoya phenomenon Proximal femoral epiphysiolysis High iliac wings Projectile vomiting Ivory epiphyses Straight clavicles Generalized myoclonic seizures Easy fatigability Sudden cardiac death Anterior hypopituitarism Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Gait imbalance Stroke-like episode Renal tubular dysfunction Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Ileus Tubulointerstitial nephritis Aortic dissection Episodic vomiting Neonatal hypoglycemia Pulmonary embolism Distal arthrogryposis Drowsiness Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Vitiligo Cardiorespiratory arrest Xerostomia Heart block Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Hemianopia Motor polyneuropathy Abnormality of immune system physiology Paralytic ileus Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Abnormal cochlea morphology Spotty hypopigmentation Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Paronychia Abnormal macular morphology Dysesthesia Gastroparesis Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Amaurosis fugax Hemeralopia Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Primary adrenal insufficiency Thyroiditis Sensory impairment Truncal ataxia Anorexia Gingival overgrowth Abnormality of retinal pigmentation Hallucinations Cerebral visual impairment Cardiac arrest Generalized hirsutism Decreased body weight Hypogonadotrophic hypogonadism Type I diabetes mellitus Exercise intolerance Purpura Macular degeneration Pancreatitis Left ventricular hypertrophy Involuntary movements Ragged-red muscle fibers Abnormality of the cardiovascular system Migraine Increased serum lactate Memory impairment Specific learning disability Amenorrhea Pigmentary retinopathy Generalized-onset seizure Hypertrichosis Bilateral sensorineural hearing impairment Nephrotic syndrome Pulmonary arterial hypertension Status epilepticus Psychosis Ventricular hypertrophy Atrial fibrillation Reduced tendon reflexes Ischemic stroke Rhabdomyolysis Hyperkalemia Overlapping toe Adrenal insufficiency Bundle branch block Aphasia Vestibular dysfunction Dysphasia Visual field defect Focal segmental glomerulosclerosis Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Hyperthyroidism Abnormality of neuronal migration Hemiplegia/hemiparesis Mutism Decreased nerve conduction velocity Goiter Hyperkinesis Convex nasal ridge Growth abnormality Chronic kidney disease Cachexia Hypercalciuria Bifid scrotum Hemiplegia Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Microdontia Pectus carinatum Underdeveloped nasal alae Type II transferrin isoform profile Waddling gait Generalized muscle weakness Inability to walk Long face Arachnodactyly Lower limb muscle weakness Limb muscle weakness Dolichocephaly Paralysis Facial palsy Kyphoscoliosis Mandibular prognathia Respiratory failure Abnormal T cell morphology Progressive muscle weakness Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Abnormal cortical gyration Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Abnormal intestine morphology Hyperbilirubinemia Lymphopenia Hypohidrosis Pancytopenia Focal-onset seizure Decreased antibody level in blood Nephrolithiasis Decreased liver function Postaxial polydactyly Spherocytosis Microphthalmia Malar flattening Behavioral abnormality Intellectual disability, severe Neoplasm Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Cavernous hemangioma Diaphragmatic eventration Head tremor Narrow face Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Long fingers Neonatal respiratory distress Myotonia Pyloric stenosis Hemangioma Sleep apnea Severe muscular hypotonia Accelerated skeletal maturation Nephrocalcinosis Hepatic steatosis Cirrhosis Agenesis of corpus callosum Meningitis Tapered finger Smooth philtrum Craniosynostosis Wide mouth Clinodactyly Reduced orotidine 5-prime phosphate decarboxylase activity Pyrimidine-responsive megaloblastic anemia Orotic acid crystalluria Folate-unresponsive megaloblastic anemia Oroticaciduria Megaloblastic anemia Abnormal toenail morphology Abnormality of the ureter Aminoaciduria Aciduria High myopia Neutropenia Hematuria Macrocytic dyserythropoietic anemia Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Mild postnatal growth retardation Erythroid hyperplasia Anemia of inadequate production Increased serum ferritin Reticulocytosis Macrocytic anemia Prolonged neonatal jaundice Abnormal vertebral morphology Small nail Hypodontia Preauricular skin tag Abnormal cardiac septum morphology Breech presentation Muscular hypotonia of the trunk Neonatal hypotonia Elevated hepatic transaminase Hyperkeratosis Polydactyly Hyperhidrosis Increased urinary sedoheptulose Abnormality of globe location Neonatal asphyxia Abnormal CNS myelination Postprandial hyperglycemia Subcortical cerebral atrophy Cholestatic liver disease Recurrent hypoglycemia Diastasis recti Microcytic anemia Shallow orbits Steatorrhea Hyperglycemia Portal hypertension Adducted thumb Arnold-Chiari malformation Large fontanelles Hypotelorism Short foot Short 2nd finger Long toe Moderate global developmental delay Sparse lateral eyebrow Down-sloping shoulders Babinski sign Pes cavus Prominent nose Lymphedema Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Pleural effusion Failure to thrive in infancy Poor suck Deep philtrum Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hyperpigmentation of the skin Facial hypotonia Epistaxis Cyanosis Wide intermamillary distance Esotropia Lymphoma Triangular face Ascites Highly arched eyebrow Thick vermilion border Bruising susceptibility Falls Joint hypermobility Astigmatism Abnormality of the foot Abnormal eyebrow morphology Hydrocele testis Leukemia Abnormality of the subarachnoid space Delayed myelination Full cheeks Abnormality of skin pigmentation Dry skin Micromelia Joint hyperflexibility Microtia Skeletal dysplasia Severe short stature Clinodactyly of the 5th finger Hypospadias Obesity Dilatation Brachydactyly Reduced factor X activity Short attention span Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Abnormality of the spleen B-cell lymphoma Pulmonic stenosis Sparse hair Deeply set eye Hypergonadotropic hypogonadism Sparse body hair Ankle clonus Mixed hearing impairment Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Gynecomastia Hip contracture Thickened skin Abnormal form of the vertebral bodies Thick lower lip vermilion Bradykinesia Otitis media Nevus Hypoplasia of the maxilla Neurodegeneration Downturned corners of mouth Distal amyotrophy Genu valgum Synophrys Abnormal pyramidal sign Conductive hearing impairment Congenital hypothyroidism Striae distensae Prominent forehead Absent axillary hair Posteriorly rotated ears Abnormality of cardiovascular system morphology Frontal bossing Depressed nasal bridge Delayed speech and language development Strabismus Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Posterior polar cataract Restlessness Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Prominent ear helix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Vertigo, related diseases and genetic alterations Fever and Frontal bossing, related diseases and genetic alterations Brachydactyly and Thrombocytopenia, related diseases and genetic alterations Flexion contracture and Babinski sign, related diseases and genetic alterations Cleft palate and Retinopathy, related diseases and genetic alterations

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