Lymphoma, and Polymicrogyria

Diseases related with Lymphoma and Polymicrogyria

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

Top matches:

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

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Other less relevant matches:

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

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

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Polymicrogyria

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Muscular hypotonia Acute lymphoblastic leukemia Hydrocephalus Depressed nasal bridge Short stature Downslanted palpebral fissures Neoplasm Myopia Growth delay Hypertelorism Patent ductus arteriosus Broad forehead Microphthalmia Failure to thrive Pachygyria Cataract Retrognathia Abnormal facial shape Abnormal heart morphology Intrauterine growth retardation Hearing impairment Scoliosis Strabismus Telangiectasia Overgrowth Motor delay Ventriculomegaly Atrial septal defect Microcephaly Ataxia Low-set ears Cognitive impairment Cutis marmorata Pointed chin Retinal detachment Thick vermilion border Macrotia Hyperactivity Mandibular prognathia Arteriovenous malformation Multiple cafe-au-lait spots Long philtrum Macrocephaly Dilatation Edema Wide nasal bridge Cutis marmorata telangiectatica congenita Hypertonia Cafe-au-lait spot Prominent nasal bridge Frontal bossing Ventricular septal defect Abnormality of cardiovascular system morphology Thrombocytopenia Abnormality of the skeletal system Agenesis of corpus callosum Prominent forehead Vesicoureteral reflux Cortical dysplasia Abnormality of the kidney Nystagmus Cleft palate High palate Cleft upper lip

Rare Symptoms - Less than 30% cases

Ascites Aortic valve stenosis Sensorineural hearing impairment Low anterior hairline Bicuspid aortic valve Redundant skin Toe syndactyly Finger syndactyly Glioma Abnormality of the nervous system Ptosis Syndactyly Spasticity Neuroblastoma Rhabdomyosarcoma Astrocytoma Multiple lipomas Cellulitis Abnormality of the upper limb Hodgkin lymphoma Prolactin excess Megalencephaly Meningioma Hydrocele testis Abnormality of the lower limb Intestinal polyposis Medulloblastoma Neoplasm of the central nervous system Intestinal polyp Colorectal polyposis Progressive macrocephaly Heterotopia Nephroblastoma Freckling Anteverted nares Aplasia/Hypoplasia of the skin Oral cleft Alopecia Hypoplasia of the corpus callosum Amenorrhea Hemangioma Hernia Encephalocele Joint laxity Camptodactyly Abnormality of the pinna Sparse hair Talipes Nail dysplasia Hypertrichosis Cryptorchidism High myopia Hoarse voice Cutis laxa Large for gestational age Absent septum pellucidum Inverted nipples Large earlobe Dilation of lateral ventricles Prominent fingertip pads Mental deterioration Flexion contracture Chylothorax Midface retrusion Thin upper lip vermilion Intellectual disability, severe Blindness Smooth philtrum Postnatal growth retardation Visual loss Upslanted palpebral fissure Short neck Glaucoma Aplasia cutis congenita of scalp Neonatal hypotonia Vitreoretinopathy Attention deficit hyperactivity disorder Wide nose Calvarial skull defect Aplasia cutis congenita Sloping forehead Lymphedema Deep philtrum Abnormality of the hair Flat occiput Chorioretinal atrophy Talipes equinovarus Bilateral ptosis Lymphopenia Hypothyroidism Abnormal cardiac septum morphology Skeletal muscle atrophy Brachydactyly Delayed speech and language development Pain Muscle weakness Intellectual disability, moderate Immunodeficiency Conductive hearing impairment Hydronephrosis Broad thumb Subcutaneous nodule Tracheoesophageal fistula Chronic diarrhea Optic atrophy Prominent nose Joint hypermobility Kyphosis Oligodactyly Short nose Behavioral abnormality Abnormality of the metacarpal bones Anal atresia Brachycephaly Narrow mouth Narrow face Intellectual disability, mild Diarrhea Carcinoma Trigonocephaly Bifid uvula Abnormality of the outer ear Ectropion Low-set, posteriorly rotated ears Short palpebral fissure Lissencephaly Spontaneous abortion Craniosynostosis Postnatal microcephaly Low posterior hairline Webbed neck Highly arched eyebrow Everted lower lip vermilion Iris coloboma Skin rash Malabsorption Facial asymmetry Overfolded helix Widow's peak Chorioretinal coloboma Small posterior fossa Postaxial hand polydactyly Abnormality of the skin Nevus Postaxial polydactyly Stroke Proptosis Deeply set eye High forehead Polydactyly Arrhythmia Duplication of phalanx of hallux Abnormality of the sternum Unilateral ptosis Small thenar eminence Facial edema U-Shaped upper lip vermilion Congenital ptosis Retinal coloboma Depressed nasal tip Esophageal atresia Protruding tongue Long palpebral fissure Arthrogryposis multiplex congenita Cleft lip Microtia Bulbous nose Pancytopenia Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Bowing of the long bones Renal dysplasia Thin skin Large fontanelles Progressive visual loss Retinal degeneration Hypotelorism Joint hyperflexibility Congenital cataract Nyctalopia Short thumb Abnormal vertebral morphology Spina bifida occulta Cerebral atrophy Cerebellar atrophy Visual impairment Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Occipital encephalocele Meningocele Coloboma Cephalocele Wide mouth Joint stiffness Feeding difficulties in infancy Purpura Coarse facial features Weight loss Micropenis Cerebral cortical atrophy Posteriorly rotated ears Abnormality of metabolism/homeostasis Dystonia Feeding difficulties Bifid ureter Underdeveloped nasal alae Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Anomalous pulmonary venous return Large forehead Multicystic kidney dysplasia Nevus flammeus Shock Mastoiditis Tetralogy of Fallot Esotropia Gastrointestinal hemorrhage Premature birth Short distal phalanx of finger Cirrhosis Pulmonic stenosis EEG abnormality Osteopenia Cerebellar hypoplasia Hypertension Progressive vitiligo Malar prominence Pulmonary arterial hypertension Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Abnormality of chromosome stability Recurrent sinopulmonary infections B-cell lymphoma Coarctation of aorta Small nail Abnormal eyelid morphology Congenital hepatic fibrosis Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Periventricular leukomalacia Porencephalic cyst Esophageal varix Hemiparesis Pulmonary artery atresia Hypoplastic fingernail Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Cutaneous finger syndactyly Hypoplastic left heart Supernumerary nipple Portal hypertension Leukopenia Meningitis Split hand Recurrent bronchitis Acute leukemia Cutaneous syndactyly Anemia Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Cavum septum pellucidum Atrial flutter Hemihypertrophy Displacement of the external urethral meatus Varicose veins Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Lumbar kyphosis Syringomyelia Telangiectasia of the skin Abnormality of digit Reduced bone mineral density Arnold-Chiari malformation Ischemic stroke Leukocoria Vascular ring Hearing abnormality Recurrent urinary tract infections Anal stenosis Autoimmune hemolytic anemia Abnormality of the musculature Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Recurrent pneumonia Sinusitis Bronchiectasis Abnormality of the face Blue nevus Choanal atresia Primary amenorrhea Cutaneous photosensitivity Convex nasal ridge Otitis media Neurodegeneration Hemolytic anemia Small for gestational age Respiratory failure Recurrent respiratory infections Pneumonia Hypospadias Respiratory insufficiency Flared femoral metaphysis Calcaneovalgus deformity Sacrococcygeal teratoma Multiple trichilemmomata Recurrent infections Colon cancer Neurofibromas Basal cell carcinoma Hypermelanotic macule Pectus excavatum Sarcoma Autism Sepsis Hypopigmentation of the skin Neutropenia Lobular carcinoma in situ Merkel cell skin cancer Abnormality of abdomen morphology Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Proximal muscle weakness Headache Pituitary adenoma Follicular thyroid carcinoma Carpal bone aplasia Metopic synostosis Abnormality of the carpal bones Reduced visual acuity Urogenital fistula Flat forehead Bilateral radial aplasia Severe short stature Aplasia of metacarpal bones Bicoronal synostosis Perineal fistula Limited shoulder movement Persistent cloaca Midface capillary hemangioma Brain neoplasm Anomalous splenoportal venous system Aphalangy of the hands Unilateral radial aplasia Tremor Myopathy Adenocarcinoma of the colon Acute myelomonocytic leukemia Gray matter heterotopias Axillary freckling Glioblastoma multiforme Ependymoma Lisch nodules Endometrial carcinoma Varicocele Rigidity Melanocytic nevus Hashimoto thyroiditis Renal cell carcinoma Intention tremor Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cystic hygroma Abnormality of the thyroid gland Macule Exotropia Hand polydactyly Lipoma Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Gynecomastia Drooling Cranial nerve paralysis Scaphocephaly Abnormality of the vasculature Thyroid adenoma Enlarged polycystic ovaries Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Papule Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Cavernous hemangioma Papilledema Long penis Cellular immunodeficiency Bone cyst Nausea and vomiting Ovarian cyst Abnormality of the uterus Furrowed tongue Palmoplantar keratoderma Hypoplasia of the maxilla Abnormal cerebellum morphology Macroglossia Skin tags Decreased antibody level in blood Brachyturricephaly Ulnar bowing Deep-set nails Fibular hypoplasia Coxa valga Short ribs Narrow nasal bridge Joint contracture of the hand Tall stature Anteriorly placed anus Aplasia/Hypoplasia of the thumb Fine hair Short humerus Round face Absent radius Platyspondyly Aplasia/Hypoplasia of the radius Absent thumb Abnormality of the ureter Carpal synostosis Umbilical hernia Shallow orbits Hyperhidrosis Pes cavus Delayed skeletal maturation Inguinal hernia Clinodactyly Coronal craniosynostosis Chromosome breakage Dysarthria Accelerated skeletal maturation Slurred speech Osteosarcoma Failure to thrive in infancy Horizontal eyebrow Vertebral wedging Short fourth metatarsal Hypoplasia of the radius Galactorrhea Teratoma Thin nail Thoracolumbar kyphosis Neoplasm of the skin Poor fine motor coordination Dimple chin Broad philtrum Broad face Back pain Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Secondary amenorrhea Hypoplasia of the ulna Limited elbow extension Bilateral talipes equinovarus Hallux valgus Overlapping toe Metatarsus adductus Radial deviation of finger Large hands Choanal stenosis Chorioretinal lacunae Aggressive behavior Broad nasal tip Skin ulcer Anterior plagiocephaly Abnormality of retinal pigmentation Amblyopia Thickened skin Thick lower lip vermilion Status epilepticus Bilateral sensorineural hearing impairment Patellar hypoplasia Pigmentary retinopathy Specific learning disability Full cheeks Microcornea Oxycephaly Sleep disturbance Hand oligodactyly Limited elbow movement Retinal dystrophy Lambdoidal craniosynostosis Dry skin Astigmatism Hypermetropia Corneal opacity Aplasia/Hypoplasia of the patella Retinopathy Protruding ear Muscle stiffness Venous thrombosis Melanonychia Retinal dysplasia Myopic astigmatism Chorioretinal dysplasia Exudative vitreoretinopathy Retinal thinning Panniculitis Erysipelas Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Retinal fold Rectovaginal fistula Leukonychia Abnormal toenail morphology Optic nerve hypoplasia Poikiloderma Gangrene Abnormal eyelash morphology Underdeveloped supraorbital ridges Rib fusion Cortical gyral simplification Agitation Bilateral conductive hearing impairment Anophthalmia Scaling skin Patent foramen ovale Sagittal craniosynostosis Abnormal localization of kidney Aplasia cutis congenita on trunk or limbs


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