Delayed speech and language development, and Lymphedema

Diseases related with Delayed speech and language development and Lymphedema

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Lymphedema that can help you solving undiagnosed cases.


Top matches:

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).

PROLIDASE DEFICIENCY Is also known as ;hyperimidodipeptiduria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: GARD MONDO ORPHANET MESH OMIM NCIT SCTID

More info about PROLIDASE DEFICIENCY

Medium match NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1 ) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML ), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL Is also known as cbl syndrome, cbl mutation-associated syndrome;cbl syndrome; noonan syndrome-like disorder with jmml

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO OMIM ORPHANET UMLS

More info about NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

Medium match ADAMS-OLIVER SYNDROME 2; AOS2

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO

More info about ADAMS-OLIVER SYNDROME 2; AOS2

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Other less relevant matches:

Medium match SOTOS SYNDROME 1; SOTOS1

SOTOS SYNDROME 1; SOTOS1 Is also known as sotos syndrome, cerebral gigantism, chromosome 5q35 deletion syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT MONDO OMIM

More info about SOTOS SYNDROME 1; SOTOS1

Medium match PHELAN-MCDERMID SYNDROME; PHMDS

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome;22q13 deletion; phelan-mcdermid syndrome

Related symptoms:

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


SOURCES: UMLS MONDO OMIM ORPHANET GARD SCTID MESH

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Medium match BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS Is also known as bannayan-zonana syndrome;bzs, riley-smith syndrome, ruvalcaba-myhre-smith syndrome;rmss, macrocephaly, pseudopapilledema, and multiple hemangiomata, macrocephaly, multiple lipomas, and hemangiomata;brrs; myhre-riley-smith syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID GARD NCIT MONDO SCTID ORPHANET OMIM ICD10

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

Medium match WEAVER SYNDROME; WVS

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM ORPHANET

More info about WEAVER SYNDROME; WVS

Medium match COSTELLO SYNDROME; CSTLO

Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood (Kerr et al., 2006).In patients with a clinical diagnosis of Costello syndrome, Zenker et al. (2007) identified mutations in the KRAS gene, but noted that these patients may later develop features of CFC syndrome. In either case, the findings underscore the central role of Ras in the pathogenesis of these phenotypically related disorders (Zenker et al., 2007). However, Kerr et al. (2008) commented that the diagnosis of Costello syndrome should only be used to refer to patients with mutations in the HRAS gene.

COSTELLO SYNDROME; CSTLO Is also known as faciocutaneoskeletal syndrome, fcs syndrome;fcs syndrome; faciocutaneoskeletal syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID OMIM MONDO GARD SCTID ORPHANET MESH UMLS NCIT

More info about COSTELLO SYNDROME; CSTLO

Medium match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MONDO UMLS

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as naga deficiency type 1; schindler disease type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Lymphedema

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Edema Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Lymphedema. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Pica

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Nevus Depressed nasal bridge Oxycephaly Epicanthus Motor delay Macrotia Autosomal dominant inheritance Tall stature Microcephaly Long philtrum Optic atrophy Cryptorchidism Myopathy Joint hypermobility Joint laxity Polyhydramnios Pointed chin Pain Atrial septal defect Ventriculomegaly Ptosis Abnormal heart morphology Hepatomegaly Overgrowth Intellectual disability, mild Frontal bossing Redundant skin High palate Neoplasm Low-set ears Short stature Accelerated skeletal maturation Growth delay Short neck Autosomal recessive inheritance Anteverted nares Lymphoma Agenesis of corpus callosum Spasticity Wide anterior fontanel Scoliosis Ventricular septal defect Abnormality of cardiovascular system morphology Coarse facial features Vesicoureteral reflux Large hands Sporadic Carcinoma Dolichocephaly Sparse hair Postnatal growth retardation Posteriorly rotated ears Thick vermilion border Cutis laxa Autism Neuroblastoma Prominent forehead Hearing impairment Hypertrophic cardiomyopathy Hyperkeratosis Proptosis Splenomegaly Muscular hypotonia Short nose Full cheeks Hypoglycemia Obesity Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Nephroblastoma Arnold-Chiari malformation Behavioral abnormality Megalencephaly Patent ductus arteriosus Large earlobe Acanthosis nigricans Feeding difficulties in infancy Hoarse voice Periventricular leukomalacia Nystagmus Premature birth Cutis marmorata telangiectatica congenita Aggressive behavior Cutis marmorata Macroglossia Small nail Bulbous nose Abnormality of the nervous system Talipes equinovarus Inguinal hernia Protruding ear Hernia Wide mouth Cerebellar hypoplasia Narrow palate Wide nose Telangiectasia Umbilical hernia Cerebral atrophy Abnormal dermatoglyphics Teratoma Hamartomatous polyposis Arthrogryposis multiplex congenita Hypoplasia of dental enamel Sacrococcygeal teratoma Cognitive impairment Feeding difficulties Respiratory failure Abnormality of the dentition Absent speech Abnormality of the genital system Gastroesophageal reflux Intellectual disability, moderate Neonatal hypotonia Muscle weakness Broad thumb Hamartoma Joint hyperflexibility Neurological speech impairment Hypermetropia Rhabdomyosarcoma Thin nail Apraxia High, narrow palate Hypoplastic toenails Deep-set nails Cortical visual impairment Sleep disturbance Abnormality of the pinna Dilatation Mandibular prognathia Hypertonia Failure to thrive Hydrops fetalis Fine hair Ascites Wide intermamillary distance Webbed neck Leukemia Broad forehead Pectus excavatum Cardiomyopathy Hypertension Prolonged neonatal jaundice Cafe-au-lait spot Abnormality of the fingernails Low anterior hairline Asthma Hepatitis Low posterior hairline Eczema Hirsutism Genu valgum Hepatosplenomegaly Visual impairment Milia Poor suck Hyperhidrosis Hydrocephalus Flexion contracture Thickened nuchal skin fold Pseudohypoparathyroidism Abnormality of earlobe Congenital onset Lissencephaly Centrally nucleated skeletal muscle fibers Redundant neck skin Hand clenching Dimple chin Labial hypoplasia Concave nail Peripheral neuropathy Ureteral duplication Intellectual disability, severe Asymmetric growth Myoclonus Broad philtrum Hemihypertrophy Abnormal pyramidal sign Diastasis recti Broad face Developmental regression Gonadoblastoma Deep palmar crease Nevus flammeus Otosclerosis Galactorrhea Choroideremia Short fourth metatarsal Abnormally low-pitched voice Posterior helix pit Large placenta Flared femoral metaphysis Anterior creases of earlobe Branchial cyst Facial hemangioma Vertebral wedging Leiomyosarcoma Central apnea Infra-orbital crease Adrenocortical carcinoma Sensory neuropathy Elevated alpha-fetoprotein Hepatoblastoma Prominent fingertip pads Visceromegaly Horizontal eyebrow Urogenital fistula Areflexia Lumbar kyphosis Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dilation of lateral ventricles Neurodevelopmental delay Flared humeral metaphysis Amenorrhea Vertigo Coxa valga Short ribs Cardiomegaly Joint contracture of the hand Hypertrichosis Nephrolithiasis Omphalocele Large fontanelles Pachygyria Congenital diaphragmatic hernia Nail dysplasia Melanocytic nevus Abnormality of extrapyramidal motor function Aplasia/Hypoplasia of the cerebellum Nephropathy Hemiplegia/hemiparesis Round face Generalized amyotrophy Talipes Platyspondyly Camptodactyly Telangiectasia of the skin Fragile nails Hypercalciuria Verrucae Multiple renal cysts Prominent metopic ridge Down-sloping shoulders Neonatal hypoglycemia Hypoplastic iliac wing Hydrocele testis Exocrine pancreatic insufficiency Acute lymphoblastic leukemia Prolactin excess Paresthesia Polycythemia Inverted nipples Enlarged kidney Secondary amenorrhea Radial deviation of finger Absent septum pellucidum Back pain Large for gestational age Slurred speech Overlapping toe Prominent occiput Bilateral talipes equinovarus Limited elbow extension Metatarsus adductus Sleep apnea Flat occiput Congenital megaureter Systolic heart murmur Schwannoma Pyloric stenosis Relative macrocephaly Arnold-Chiari type I malformation Melena Hypopnea Barrel-shaped chest Postprandial hyperglycemia Hyperextensible skin Achilles tendon contracture Progeroid facial appearance Laryngomalacia Obstructive sleep apnea Sudden death Hyperglycemia Sarcoma Woolly hair Ulnar deviation of the wrist Atrial fibrillation Bladder neoplasm Abnormality of dental enamel Hematemesis Shyness Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hyperpigmentation of the skin Failure to thrive in infancy Soft skin Choroid plexus papilloma Fetal distress Central hypotonia Syringomyelia Microscopic hematuria Tracheomalacia Curly hair Keratoconus Bronchomalacia Generalized hyperpigmentation Ulnar deviation of finger Abnormality of the vasculature Reduced subcutaneous adipose tissue Papilloma Pneumothorax Infantile muscular hypotonia Severe postnatal growth retardation Hypoplasia of teeth Heart murmur Large face Bilateral cryptorchidism Deep plantar creases Rhabdomyolysis Triangular mouth Duodenal ulcer Capillary malformation Limited elbow movement Abnormality of the hair Neonatal sepsis Limited knee extension Fasting hypoglycemia Vomiting Arrhythmia Coma Loose anagen hair Lack of skin elasticity Renal insufficiency Alveolar rhabdomyosarcoma Myofiber disarray Abnormality of the skeletal system Enlarged cerebellum Multifocal atrial tachycardia Dysphagia Osteoporosis Asymmetric septal hypertrophy Subchorionic septal cyst Prominent digit pad Large intestinal polyposis Dysharmonic bone age Adrenocortical cytomegaly Narrow nail Congenital neuroblastoma Abnormality of the shape of the midface Thickened Achilles tendon Abnormality of pancreas morphology Cerebral cortical atrophy Cardiomyocyte hypertrophy Embryonal rhabdomyosarcoma Hyperextensibility of the finger joints Epidermal acanthosis Vestibular Schwannoma Mitral valve prolapse Thick lower lip vermilion Tetraplegia Hematuria Postural instability Sepsis Frontal hirsutism Tachycardia Abnormality of the skin Pulmonic stenosis Severe short stature Delayed puberty Body odor Macrocephaly at birth Irritability Pectus carinatum Apnea Ganglioneuroblastoma Acanthoma Bladder carcinoma Low-set, posteriorly rotated ears Hypogonadism Vitreomacular adhesion Respiratory insufficiency Recurrent pyelonephritis Hypothyroidism Single transverse palmar crease Cerebellar cyst Corpus callosum atrophy Aplasia cutis congenita Mania Narrow palpebral fissure Short finger Dermal atrophy Cerebral palsy Blue sclerae Oligohydramnios Gliosis Short foot Aplasia cutis congenita of scalp Retinal detachment Short distal phalanx of finger Polymicrogyria Congenital cataract Muscular hypotonia of the trunk Alopecia Depressivity Syndactyly Microphthalmia Hypoplasia of the corpus callosum Intrauterine growth retardation Brachydactyly Adactyly Retinal fold Arteritis Abnormal vertebral morphology Hyperplasia of the maxilla Cavum septum pellucidum Overbite Advanced eruption of teeth Poor coordination High anterior hairline Enlarged cisterna magna Long foot Agenesis of permanent teeth Partial agenesis of the corpus callosum Precocious puberty Reduced number of teeth Heterotopia Retrocerebellar cyst Otitis media Renal agenesis Hypodontia Abnormality of the kidney Jaundice Conductive hearing impairment Pes planus Hyperreflexia Small finger Retinal nonattachment Falciform retinal fold Abdominal wall defect Juvenile myelomonocytic leukemia Chylothorax Expressive language delay Convex nasal ridge Reduced bone mineral density Inflammatory abnormality of the skin Abnormal lung morphology Bilateral single transverse palmar creases Generalized hirsutism Skin ulcer Sinusitis Abnormality of retinal pigmentation Thin skin Cutaneous photosensitivity Depressed nasal ridge Recurrent pneumonia Palmoplantar keratoderma Osteomyelitis Arachnodactyly Dry skin Papule Carious teeth Pruritus Skin rash Erythema Recurrent infections Recurrent respiratory infections Thrombocytopenia Abnormality of metabolism/homeostasis Anemia Systemic lupus erythematosus Psoriasiform dermatitis B-cell lymphoma Recurrent cystitis Short attention span Pleural effusion Overfolded helix Cubitus valgus Deep philtrum Bicuspid aortic valve Vasculitis Aortic valve stenosis Mitral regurgitation Falls Highly arched eyebrow Triangular face Crusting erythematous dermatitis Abnormality of the immune system Diffuse telangiectasia Facial hirsutism Poliosis Abnormality of the middle ear White forelock Chronic lung disease Myelitis Hypoplasia of the zygomatic bone Petechiae Elevated erythrocyte sedimentation rate Aplasia/Hypoplasia of the skin Abnormality of the hip bone Abnormal glucose tolerance Gray matter heterotopias Clinodactyly Irregular hyperpigmentation Abnormality of the optic nerve Angina pectoris Meningioma Hashimoto thyroiditis Thyroiditis Hematochezia Capillary hemangioma Scaphocephaly Papilledema Arteriovenous malformation Multiple cafe-au-lait spots Multiple lipomas Cavernous hemangioma Supernumerary nipple Delayed gross motor development Incoordination Cerebral hemorrhage Lipoma Intracranial hemorrhage Aortic aneurysm Drooling Cachexia Hemangioma Amblyopia Macule Decreased plasma carnitine Thyroid carcinoma Subcutaneous nodule Pseudopapilledema Retrognathia Pes cavus Midface retrusion Kyphosis Dysarthria Cleft palate Abnormal large intestine morphology Neoplasm of the adrenal cortex Abnormally prominent line of Schwalbe Birth length greater than 97th percentile Cutaneous angiolipomas Uterine neoplasm Progressive macrocephaly Intestinal polyposis Thick corpus callosum Intussusception Abdominal wall muscle weakness Angiokeratoma Macrodactyly Intestinal polyp Lymphangioma Subcutaneous hemorrhage Neoplasm of the breast Visceral angiomatosis Long penis Venous malformation Exotropia Juvenile onset Small cell lung carcinoma Respiratory tract infection Hypohidrosis Dental crowding Renal dysplasia Dental malocclusion Febrile seizures Hepatic failure Unsteady gait Thick eyebrow Nausea and vomiting Facial asymmetry Autistic behavior Deeply set eye Hydronephrosis Sacral dimple EEG abnormality Hyperactivity Constipation Immunodeficiency Hyporeflexia Clinodactyly of the 5th finger Malar flattening Diarrhea Gait disturbance Tics Wide nasal bridge Abnormality of the cerebral ventricles Long eyelashes Recurrent upper respiratory tract infections Acrania Delayed CNS myelination Proximal muscle weakness Skeletal muscle atrophy Fulminant hepatic failure Hair-pulling Tongue thrusting Hyperorality Cerebellar cortical atrophy Episodic vomiting Toenail dysplasia Periorbital fullness Heat intolerance Concave nasal ridge Bruxism Prominent supraorbital ridges Abnormality of the periventricular white matter Palpebral edema Arachnoid cyst Poor eye contact Impaired pain sensation 2-3 toe syndactyly Cellulitis Broad-based gait Polycystic kidney dysplasia Short chin Abnormality of the outer ear Recurrent skin infections Abnormality of brainstem morphology


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