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.
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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
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
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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
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
'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
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
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
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
|
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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
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