Lymphoma, and Spina bifida

Diseases related with Lymphoma and Spina bifida

In the following list you will find some of the most common rare diseases related to Lymphoma and Spina bifida that can help you solving undiagnosed cases.

Top matches:

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Other less relevant matches:

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Top 5 symptoms//phenotypes associated to Lymphoma and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Lymphoma and Spina bifida. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Leukemia

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Abnormality of the skeletal system Epicanthus Hearing impairment Thrombocytopenia Abnormality of cardiovascular system morphology Visual impairment Joint hyperflexibility Hypertelorism Growth delay Generalized hypotonia Multiple cafe-au-lait spots Pancytopenia Global developmental delay Low-set, posteriorly rotated ears Cognitive impairment Cafe-au-lait spot Malabsorption Ataxia Myopia Recurrent infections Intrauterine growth retardation Ptosis Abnormal heart morphology Motor delay Weight loss Myeloid leukemia Cerebellar atrophy Hypertrophic cardiomyopathy Acute lymphoblastic leukemia Cataract Chronic myelogenous leukemia Respiratory insufficiency Gastrointestinal hemorrhage Frontal bossing Abnormal vertebral morphology Spina bifida occulta Tetralogy of Fallot Microcephaly Abnormality of chromosome stability Tibial bowing Brachycephaly Aganglionic megacolon Micrognathia Abnormality of the kidney Abnormal cardiac septum morphology B-cell lymphoma Dilatation Facial asymmetry Abnormality of skin pigmentation Neutropenia Hypopigmentation of the skin Immunodeficiency Hypospadias Cryptorchidism Severe short stature Hypertension Peripheral neuropathy Abnormal facial shape Abnormal localization of kidney Hepatomegaly Failure to thrive Carcinoma High palate Chromosome breakage Ventriculomegaly Delayed skeletal maturation Narrow face

Rare Symptoms - Less than 30% cases

Hydronephrosis Mitral valve prolapse Pain Non-Hodgkin lymphoma Cellular immunodeficiency Overgrowth Blindness Delayed speech and language development Specific learning disability Cardiomyopathy Peripheral axonal neuropathy Paresthesia Pulmonic stenosis Hypersplenism Delayed puberty Dysarthria Macrocephaly Neonatal short-limb short stature Reduced bone mineral density Hypoplastic anemia Visual loss Headache Intellectual disability, mild Glaucoma Clinodactyly of the 5th finger Breast carcinoma Decreased antibody level in blood Rhizomelia Tremor Bronchiectasis Abnormal form of the vertebral bodies Abnormality of the metaphysis Gait disturbance Lumbar hyperlordosis Muscular hypotonia Wide nasal bridge Short neck Lymphopenia Recurrent respiratory infections Splenomegaly Alopecia Pneumonia Abnormality of movement Skeletal dysplasia Hyperlordosis Rigidity Pectus carinatum Skeletal muscle atrophy Resting tremor Aplasia/Hypoplasia of the abdominal wall musculature Flexion contracture Back pain Aplastic anemia Sensory axonal neuropathy Generalized joint laxity Fair hair Freckling Micromelia Melanocytic nevus Overweight Hodgkin lymphoma Hypopigmentation of hair Neuroblastoma Anomalous pulmonary venous return Limited elbow extension Squamous cell carcinoma Spinocerebellar tract degeneration Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Reduced tendon reflexes Brachydactyly Difficulty walking Hyperreflexia Polymicrogyria Cranial nerve paralysis Behavioral abnormality Fever Prominent forehead Proptosis Conductive hearing impairment Anal atresia Vesicoureteral reflux Abnormality of vision Telangiectasia Recurrent urinary tract infections Abnormality of the genital system Bowing of the long bones Short thumb Abnormality of the hair Bruising susceptibility Cleft palate Mental deterioration Hypoplasia of the ulna Abnormality of femur morphology Postnatal growth retardation Craniosynostosis Attention deficit hyperactivity disorder Toe syndactyly Pectus excavatum Abnormal aortic valve morphology Small hand Sloping forehead Myelodysplasia Fine hair Cutaneous photosensitivity Abnormality of the testis Sacral dimple Aplasia/Hypoplasia of the thumb Anal stenosis Glucose intolerance Midface retrusion Tracheoesophageal fistula Leukopenia Absent thumb Patent ductus arteriosus Aplasia/Hypoplasia of the radius Abnormality of the eye Atrial septal defect Diabetes mellitus Macular hypoplasia Absent radius Abnormality of the liver Pyridoxine-responsive sideroblastic anemia Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Numerous nevi Hypoplasia of the ovary Multiple lentigines Abnormal pulmonary valve morphology Abnormal endocardium morphology Abnormality of the preputium Excessive wrinkled skin Aplasia/Hypoplasia of the iris Abnormality of the pulmonary artery Shield chest Total anomalous pulmonary venous return Cerebral atrophy Aplasia cutis congenita of scalp Large forehead Anemic pallor Edema Prolonged G2 phase of cell cycle Exudative retinal detachment Jaundice Complete duplication of thumb phalanx Band keratopathy Partial duplication of thumb phalanx Reduced visual acuity Lymphangioma Clubbing of toes Decreased fertility in males Phthisis bulbi Abnormal vitreous humor morphology Cerebellar malformation Peripapillary atrophy Redundant neck skin Chromosomal breakage induced by crosslinking agents Absent testis Occipital meningocele Compensated hypothyroidism Bifid ureter Cephalocele Lens luxation Almond-shaped palpebral fissure Sensorineural hearing impairment Hyporeflexia Areflexia Abnormal carotid artery morphology Abnormal mitral valve morphology Premature skin wrinkling Wolff-Parkinson-White syndrome Encephalocele Arrhythmia Thin skin Left ventricular hypertrophy Subcutaneous nodule Chorioretinal atrophy Abnormality of the face Posteriorly rotated ears Cortical dysplasia Dextrocardia Myocardial infarction Webbed neck High myopia Pachygyria Hyperkeratosis Ectopia lentis Horizontal nystagmus Nevus Mandibular prognathia Macular degeneration Triangular face Neonatal hypotonia Thick vermilion border Pyloric stenosis Scapular winging Progressive visual loss Retrognathia Abnormality of the ear Right ventricular hypertrophy Corneal dystrophy Sprengel anomaly Calvarial skull defect Vitreoretinopathy Severe sensorineural hearing impairment Curly hair Atrioventricular canal defect Decreased fertility Nyctalopia Congenital cataract External genital hypoplasia Retinal detachment Bundle branch block Bilateral cryptorchidism Meningocele Aplasia cutis congenita Abnormality of the voice Hyperextensible skin Retinal degeneration Occipital encephalocele Bulbous nose Melanoma Absent septum pellucidum Low-set ears Dystonia Hepatosplenomegaly Oral cleft Gastroesophageal reflux Arthralgia Abnormality of the nervous system Cleft lip Apnea Scarring Confusion Sleep disturbance Malar flattening Otitis media Epidermal acanthosis Tetraparesis Osteoarthritis Recurrent otitis media Abnormal lung morphology Short toe Clonus Obesity Defective B cell differentiation Acanthosis nigricans Decreased proportion of CD4-positive T cells Absent Achilles reflex Hypoplasia of the thymus Chronic lymphatic leukemia Conjunctival telangiectasia Neoplasm of the breast Abnormal spermatogenesis Elevated alpha-fetoprotein Chronic hepatitis IgE deficiency Female hypogonadism Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the thymus Mucosal telangiectasiae Progressive spinal muscular atrophy Immunoglobulin IgG2 deficiency Decreased/absent ankle reflexes Interosseus muscle atrophy Paraparesis Sleep apnea Renal neoplasm Hypopnea Hypoxemia Myelopathy Recurrent ear infections Thoracolumbar kyphosis Central sleep apnea Cervical myelopathy Obstructive lung disease Cervical cord compression Cor pulmonale Iritis Small foramen magnum Childhood onset short-limb short stature Brain stem compression Limited hip extension Trident hand Spinal stenosis with reduced interpedicular distance Myelitis Multiple epiphyseal dysplasia Central apnea Infantile muscular hypotonia Disproportionate short stature Short long bone Tinnitus Epiphyseal dysplasia Chronic otitis media Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Bowel incontinence Hip contracture Dysuria Spinal canal stenosis Abnormality of the elbow Obstructive sleep apnea Spinal cord compression Megalencephaly Osteopetrosis Communicating hydrocephalus Upper airway obstruction Lymphoproliferative disorder Recurrent bronchitis Photophobia Hemophagocytosis Generalized hyperpigmentation Gingival bleeding Iris hypopigmentation Gingivitis Periodontitis Generalized hypopigmentation White hair Progressive peripheral neuropathy Albinism Partial albinism Recurrent bacterial skin infections Oculogyric crisis Hypofibrinogenemia Abnormal leukocyte morphology Recurrent cutaneous abscess formation Giant melanosomes in melanocytes Abnormality of multiple cell lineages in the bone marrow Cerebral hemorrhage Decreased nerve conduction velocity Generalized hypopigmentation of hair Parkinsonism Developmental regression Spastic paraplegia Paraplegia Lymphadenopathy Falls Sensory neuropathy Neurodegeneration Abnormal bleeding Brain atrophy Foot dorsiflexor weakness Peripheral demyelination Bradykinesia Abnormality of extrapyramidal motor function Epistaxis Hypertriglyceridemia Amblyopia Hyperpigmentation of the skin Skin ulcer Recurrent systemic pyogenic infections Muscle weakness Recurrent lower respiratory tract infections Athetosis Truncal ataxia Recurrent pneumonia Oculomotor apraxia Cerebral palsy Slurred speech Polycystic ovaries Spinal muscular atrophy Combined immunodeficiency Limb ataxia Premature graying of hair Aplasia/Hypoplasia of the skin Telangiectasia of the skin Abnormality of the immune system Prematurely aged appearance IgA deficiency Hepatocellular carcinoma Severe combined immunodeficiency Sinusitis Choreoathetosis Spasticity Abnormality of eye movement Meckel diverticulum Myoclonus Gait ataxia Elevated hepatic transaminase Anxiety Respiratory tract infection Distal muscle weakness Neurological speech impairment Unsteady gait Intention tremor Distal amyotrophy Polyneuropathy Abnormal cerebellum morphology Progressive cerebellar ataxia Chorea Hepatitis Apraxia Type II diabetes mellitus Low-grade fever Narrow vertebral interpedicular distance Duplicated collecting system Paralysis Hyperactivity Autism Kyphoscoliosis Osteopenia Hypoglycemia Autistic behavior Pruritus Depressivity Genu valgum Recurrent fractures Abnormality of the cardiovascular system Coarctation of aorta Hypsarrhythmia Bone pain Osteoporosis Unilateral radial aplasia Atherosclerosis Bilateral radial aplasia Ulnar bowing Brachyturricephaly Metopic synostosis Abnormality of the carpal bones Urogenital fistula Flat forehead Aplasia of metacarpal bones Aphalangy of the hands Bicoronal synostosis Perineal fistula Limited shoulder movement Persistent cloaca Carpal bone aplasia Midface capillary hemangioma Anomalous splenoportal venous system Sensorimotor neuropathy Venous thrombosis Lambdoidal craniosynostosis Glioma Complete atrioventricular canal defect Night sweats Paraganglioma Carcinoid tumor Rhabdomyosarcoma Nasolacrimal duct obstruction Schwannoma Parathyroid adenoma Renal phosphate wasting Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Pheochromocytoma Aqueductal stenosis Incoordination Osteomalacia Sarcoma Precocious puberty Clitoral hypertrophy Hypophosphatemia Pulmonary fibrosis Neurofibromas Renal cell carcinoma Astrocytoma Severe vision loss Increased reactive oxygen species production Gangrene Meningioma Neoplasm of the endocrine system Myocardial fibrosis Brain neoplasm Aplasia/Hypoplasia of the patella Limited elbow movement Epigastric pain Abnormality of the antihelix Cutis marmorata Metatarsus adductus Delayed cranial suture closure Submucous cleft hard palate Underdeveloped supraorbital ridges Hypoparathyroidism Sparse lateral eyebrow Aplasia/Hypoplasia of the corpus callosum Rectal prolapse Abnormality of neutrophils Abnormality of female external genitalia Abnormality of thumb phalanx Optic atrophy Downslanted palpebral fissures Hypoplastic toenails Sandal gap Short nose Short foot Abnormality of the dentition Telecanthus Protruding ear Wide mouth Blepharophimosis Dry skin Delayed eruption of teeth Abnormality of the fingernails Asthma Eczema Sparse scalp hair Broad thumb Chronic diarrhea Wide anterior fontanel Low anterior hairline Ventricular septal defect Agenesis of corpus callosum Hand oligodactyly Rectovaginal fistula Abnormality of the ureter Carpal synostosis Shallow orbits Coronal craniosynostosis Choanal stenosis Osteosarcoma Poikiloderma Oligodactyly Rib fusion Bilateral conductive hearing impairment Sagittal craniosynostosis Oxycephaly Anterior plagiocephaly Patellar hypoplasia Fibular hypoplasia Short humerus Narrow mouth Hypotelorism Skin rash Prominent nasal bridge Broad forehead Bifid uvula Prominent nose Underdeveloped nasal alae Renal dysplasia Anteriorly placed anus Large fontanelles Abnormality of the metacarpal bones Hypoplasia of the radius Failure to thrive in infancy Trigonocephaly Hallux valgus Narrow nasal bridge Dural ectasia Soft tissue sarcoma Duodenal stenosis Pes planus Renal insufficiency Microphthalmia Hypogonadism Upslanted palpebral fissure Hypothyroidism Umbilical hernia Irritability Respiratory distress Small for gestational age Finger syndactyly Hip dislocation Dolichocephaly Abnormality of the foot Astigmatism Congestive heart failure Fatigue Renal agenesis Metaphyseal dysostosis Congenital hypoplastic anemia Abnormal bone ossification Abnormally ossified vertebrae Abnormal T cell morphology Abnormality of the distal phalanx of finger Long fibula Impaired lymphocyte transformation with phytohemagglutinin Pulmonary lymphoma Sparse facial hair Severe T-cell immunodeficiency Biconvex vertebral bodies Abnormality of humoral immunity Absent pubertal growth spurt Flaring of lower rib cage Susceptibility to chickenpox Vertigo Oligohydramnios Large face Bicornuate uterus Abnormal eyelid morphology Abnormality of the ulna Arteriovenous malformation Abnormality of the upper limb Abnormality of the uterus Abnormality of the thumb Acute monocytic leukemia External ear malformation Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Reticulocytopenia Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Hearing abnormality Irregular hyperpigmentation Short palpebral fissure Azoospermia Choanal atresia Insulin resistance Hypergonadotropic hypogonadism Bone marrow hypocellularity Horseshoe kidney Type I diabetes mellitus Renal hypoplasia/aplasia Abnormality of blood and blood-forming tissues Hypopigmented skin patches Abnormality of the urinary system Hyperinsulinemia Triphalangeal thumb Ectopic kidney Hydroureter Acute myeloid leukemia Spinal dysraphism Normocytic anemia Pseudoarthrosis Arthrogryposis multiplex congenita Diarrhea Constipation Macrotia EEG abnormality Joint laxity Sparse hair Hypotrichosis Brow ptosis Narrow chest Joint hypermobility Short palm Postural instability Convex nasal ridge Abnormality of the ribs Anteverted nares Tibial pseudoarthrosis Depressed nasal ridge Neuroma Single ventricle Renal artery stenosis Renovascular hypertension Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neurofibrosarcoma Cerebral artery stenosis Optic nerve glioma Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Blue sclerae Abnormality of epiphysis morphology Mucopolysacchariduria Heart block Hypoplasia of the odontoid process Esophageal atresia Distal arthrogryposis Exocrine pancreatic insufficiency Thrombocytosis Upper limb undergrowth Tracheal stenosis Metaphyseal dysplasia Abnormality of the pancreas Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Metaphyseal cupping Bronchiolitis Diaphyseal thickening Abnormal diaphysis morphology Macrocytic anemia High hypermetropia Abnormality of retinal pigmentation Neoplasm of the skin Gingival overgrowth Sparse and thin eyebrow Short ribs Hypocalcemia Sparse eyelashes Accelerated skeletal maturation Abnormal palate morphology Abnormality of the hip bone Portal hypertension Metaphyseal widening Cone-shaped epiphysis Short thorax Mesomelia Femoral bowing Basal cell carcinoma Lumbar kyphosis in infancy


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