Delayed speech and language development, and Thin skin

Diseases related with Delayed speech and language development and Thin skin

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


Top matches:

High match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MONDO UMLS

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B Is also known as de barsy syndrome b;pycr1 deficiency; pyrroline-5-carboxylate reductase 1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MONDO DOID UMLS

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B

Medium match GERODERMA OSTEODYSPLASTICUM; GO

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICUM; GO Is also known as gerodermia osteodysplastica, walt disney dwarfism;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: SCTID MESH OMIM ORPHANET MONDO GARD UMLS

More info about GERODERMA OSTEODYSPLASTICUM; GO

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMS

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 SHORT SYNDROME

'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers.Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome.

SHORT SYNDROME Is also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, lipodystrophy, partial, with rieger anomaly and short stature;aarskog-ose-pande syndrome; lipodystrophy-rieger anomaly-diabetes syndrome; rieger anomaly-partial lipodystrophy syndrome

Related symptoms:

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


SOURCES: OMIM GARD ORPHANET UMLS MESH MONDO

More info about SHORT SYNDROME

Medium match FUCOSIDOSIS

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: OMIM

More info about FUCOSIDOSIS

Medium match GLASS SYNDROME; GLASS

Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014).

GLASS SYNDROME; GLASS Is also known as chromosome 2q32-q33 deletion syndrome;2q32-q33 microdeletion syndrome; del(2)(q32); del(2)(q32q33); monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33

Related symptoms:

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


SOURCES: OMIM ORPHANET GARD DOID UMLS MONDO SCTID MESH

More info about GLASS SYNDROME; GLASS

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

. An autosomal recessive mode of inheritance seems most likely.

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome;bpids;

Related symptoms:

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


SOURCES: UMLS ORPHANET SCTID MESH MONDO GARD OMIM

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a, cutis laxa, corneal clouding, and mental retardation, progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: MONDO OMIM DOID ORPHANET

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Prominent forehead Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hernia

Uncommon Symptoms - Between 30% and 50% cases


Sparse hair

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Thin vermilion border Growth delay Malar flattening Flexion contracture Depressed nasal bridge Joint laxity Underdeveloped nasal alae Deeply set eye Abnormal facial shape Anteverted nares Myopia Hip dislocation Fine hair Dental malocclusion Cutis laxa Short stature Absent speech Excessive wrinkled skin Pica Frontal bossing Seizures Autosomal dominant inheritance Muscular hypotonia Inguinal hernia Microdontia Generalized hypotonia Dry skin Scoliosis Failure to thrive Severe short stature Camptodactyly Joint hyperflexibility Microcornea Brachycephaly Congenital hip dislocation Premature skin wrinkling Arachnodactyly Milia Feeding difficulties Motor delay Downslanted palpebral fissures Nystagmus Talipes equinovarus Short nose Ptosis Spasticity Corneal opacity Narrow mouth High palate Postnatal growth retardation Pes planus Strabismus Osteoporosis Posteriorly rotated ears Hyperreflexia Low-set ears

Rare Symptoms - Less than 30% cases


Splenomegaly Convex nasal ridge Abnormality of the immune system Poor suck Carious teeth Skin rash Recurrent infections Recurrent respiratory infections Short chin Thin upper lip vermilion High forehead Hepatomegaly Retrognathia Intellectual disability, severe Clinodactyly of the 5th finger Overbite Conical tooth Hypoplasia of the zygomatic bone Absent eyebrow Sparse eyebrow Wide anterior fontanel Brachydactyly Cataract Downturned corners of mouth Skeletal muscle atrophy Long face Tics Lipodystrophy Epicanthus Bilateral sensorineural hearing impairment Hypoplasia of the corpus callosum Triangular face Smooth philtrum Delayed eruption of teeth Thick eyebrow Joint hypermobility Short philtrum Short palpebral fissure Short palm Wide nose Atrial septal defect Macrotia Oxycephaly Delayed skeletal maturation Midface retrusion Abnormality of the dentition Respiratory failure Macrocephaly Wide nasal bridge Intrauterine growth retardation Telecanthus Opacification of the corneal stroma Abnormality of skin pigmentation Talipes Ventricular septal defect Progeroid facial appearance Large fontanelles Prematurely aged appearance Tibial bowing Abnormality of the outer ear Hyperextensible skin Redundant skin Wormian bones Syndactyly Abnormal heart morphology Prominent nasal bridge Hypoplasia of the maxilla Kyphoscoliosis Umbilical hernia Osteopenia Mandibular prognathia Intellectual disability, mild Dermal translucency Narrow nasal ridge Congenital glaucoma Ectodermal dysplasia Broad thumb Cryptorchidism Coma Glaucoma Blepharophimosis Blue sclerae Visual impairment Athetosis Wide mouth Nuclear cataract Long nose Generalized osteoporosis Broad hallux phalanx Abnormality of digit Restlessness Narrow nose Abnormality of the periventricular white matter Overlapping toe Bilateral talipes equinovarus Excessive salivation Mania Myopathic facies Broad-based gait Abnormality of dental morphology Tented upper lip vermilion Relative macrocephaly Oligodontia Dermal atrophy Pes valgus Cleft soft palate Hemiparesis Narrow maxilla Polar cataract Optic atrophy Wrist flexion contracture Abnormal corpus callosum morphology Abnormal cardiac septum morphology Narrow jaw Agenesis of lateral incisor Conspicuously happy disposition Calcaneovalgus deformity Incomprehensible speech Dacryocystitis Large beaked nose Broad toe Wide cranial sutures Median cleft palate Happy demeanor Toe clinodactyly Microretrognathia Long eyelashes Respiratory distress Premature loss of primary teeth Anxiety Atrioventricular canal defect Aggressive behavior Fragile nails Autism Hyperhidrosis Hyperactivity Short digit Attention deficit hyperactivity disorder Hypoargininemia Hyperprolinemia Prominent superficial blood vessels Behavioral abnormality Long philtrum Fragmented elastic fibers in the dermis Small, conical teeth Nevus Widely spaced teeth Broad forehead Talipes calcaneovalgus Prominent nose Corneal arcus Persistent left superior vena cava Hypoplastic aortic arch Prominent nasolabial fold Dental crowding Intellectual disability, profound Prominent veins on trunk Febrile seizures Nail dysplasia Facial asymmetry Decreased testicular size Sleep disturbance Poor speech Premature rupture of membranes Bulbous nose Abnormality of the foot Abnormality of the cerebral white matter Sparse scalp hair Capsular cataract Upslanted palpebral fissure Multiple joint contractures Abnormality of upper lip Patent ductus arteriosus Vomiting Pectus excavatum Kyphosis Respiratory insufficiency Tremor Slanting of the palpebral fissure Long palm Sporadic Muscle flaccidity Laryngeal stridor Narrow palm Chorioretinal dystrophy Round ear Thin eyebrow Broad eyebrow Auricular tag Agenesis of corpus callosum Protruding ear Bilateral conductive hearing impairment Mild short stature Infantile muscular hypotonia Decreased muscle mass Adducted thumb Nasal speech Thin ribs Hyperammonemia Coxa vara Progressive microcephaly Difficulty walking Cerebellar vermis hypoplasia Decreased fetal movement High myopia Progressive cerebellar ataxia Hypotelorism Scarring Sepsis Distal amyotrophy Choroideremia Diastema Constipation Large earlobe Abnormality of the kidney Severe failure to thrive Coloboma Severe intrauterine growth retardation Hyperlordosis Neurodevelopmental delay Dyspnea Overlapping fingers Single transverse palmar crease Delayed closure of the anterior fontanelle Feeding difficulties in infancy Recurrent sinopulmonary infections Muscular hypotonia of the trunk Conductive hearing impairment Gastroesophageal reflux Polydactyly Generalized joint laxity Iris coloboma High, narrow palate Hypocholesterolemia Neonatal respiratory distress Abnormality of the optic nerve Abnormal lip morphology Ovoid vertebral bodies Bell-shaped thorax Long foot Metatarsus adductus Phimosis Clitoral hypertrophy Flat occiput Postaxial polydactyly Subcapsular cataract Narrow palate Preauricular skin tag Narrow face Abnormality of cardiovascular system morphology Sparse and thin eyebrow Optic disc pallor Specific learning disability Abnormality of the nervous system Oligosacchariduria Cleft palate Hirsutism Asthma Hepatitis Cutaneous photosensitivity Depressed nasal ridge Recurrent pneumonia Low posterior hairline Beaking of vertebral bodies Eczema Palmoplantar keratoderma Sinusitis Periodontitis Papule Hyperextensibility of the finger joints Genu valgum Pruritus Biconcave vertebral bodies Hepatosplenomegaly Proptosis Hyperkeratosis Abnormality of retinal pigmentation Lymphedema Abnormal bone ossification Vertebral compression fractures White forelock Chronic lung disease Myelitis Petechiae Prolonged neonatal jaundice Elevated erythrocyte sedimentation rate Aplasia/Hypoplasia of the skin Abnormality of the hip bone Psoriasiform dermatitis Skin ulcer Osteomyelitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Inflammatory abnormality of the skin Abnormal lung morphology Bilateral single transverse palmar creases Generalized hirsutism Low anterior hairline Erythema Pseudoepiphyses Poliosis Finger syndactyly Abnormal hair pattern Abnormality of finger Absent eyelashes Abnormality of the pinna Corneal erosion Shallow orbits Hypoplastic nipples Abnormality of the mouth Microtia Labial hypoplasia Cutaneous syndactyly Toe syndactyly Ectropion Atresia of the external auditory canal Sacral dimple Hypertrichosis Omphalocele Ambiguous genitalia Hypoplasia of penis Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Obesity Ventral hernia Thrombocytopenia Abnormality of metabolism/homeostasis Edema Stooped posture Cognitive impairment Anemia Abnormality of the genital system Long uvula Hypoplasia of eyelid Breast hypoplasia Microtia, third degree Ablepharon Absent hair Cryptophthalmos Abnormality of female external genitalia Short upper lip Absent nipple Abnormal nasal morphology Camptodactyly of finger Abnormality of the middle ear Facial hirsutism Anterior beaking of thoracic vertebrae Coarse facial features Neurodegeneration Lumbar hyperlordosis Thick lower lip vermilion Macroglossia Polyneuropathy Elbow flexion contracture Pyloric stenosis Developmental regression Narrow palpebral fissure Progressive neurologic deterioration Cerebral atrophy Dystonia Abnormality of the zygomatic bone Hypoplastic facial bones Abnormality of the mandible Enlarged epiphyses Birth length less than 3rd percentile Rieger anomaly Abnormal cornea morphology Spastic tetraplegia Hypohidrosis Dimple chin Angiokeratoma Absent/hypoplastic coccyx Cervical platyspondyly Tortuosity of conjunctival vessels Absent/hypoplastic paranasal sinuses Elevated sweat chloride Anterior beaking of lumbar vertebrae Angiokeratoma corporis diffusum Short metacarpal Abnormality of temperature regulation Epiphyseal dysplasia Generalized limb muscle atrophy Abnormality of the abdominal wall Vacuolated lymphocytes Shield chest Dysostosis multiplex Barrel-shaped chest Anhidrosis Coxa valga Cardiomegaly Abnormal anterior chamber morphology Abnormal pupil morphology Diffuse telangiectasia Clinodactyly Platyspondyly Small for gestational age Neurological speech impairment Weight loss Recurrent fractures Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Diabetes mellitus Alopecia Abnormality of the eye Depressivity Bowing of the long bones Abnormality of vision Femoral bowing Sensorineural hearing impairment Irregular vertebral endplates Protuberant abdomen Recurrent cystitis Crusting erythematous dermatitis Pectus carinatum Abnormality of the skin Increased intraocular pressure Hyperglycemia Posterior embryotoxon Insulin-resistant diabetes mellitus Hypoplasia of the iris Poor appetite Megalocornea Lipoatrophy Reduced subcutaneous adipose tissue Glucose intolerance Increased body weight Hypodontia Prominent supraorbital ridges Radial deviation of finger Calcinosis Nephrocalcinosis Abnormality of dental enamel Insulin resistance Abnormality of the face Hypotrichosis EEG abnormality Abnormal fundus fluorescein angiography



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Short neck, related diseases and genetic alterations Optic atrophy and Severe short stature, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more