Brachydactyly, and Thin skin

Diseases related with Brachydactyly and Thin skin

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


Top matches:

Medium match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Medium match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

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Other less relevant matches:

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM


Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Medium match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Medium match ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Medium match MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY


Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormality of the skeletal system
  • Abnormality of the dentition
  • Short nose


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Brachydactyly and Thin skin

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Sparse hair Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Dermal atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Thin skin. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormality of the dentition

Uncommon Symptoms - Between 30% and 50% cases


Alopecia Global developmental delay Hearing impairment Intellectual disability Delayed eruption of teeth Microcephaly Low-set ears Growth delay Hypotrichosis Strabismus Prematurely aged appearance Generalized hypotonia Scoliosis Joint laxity Macrotia Hernia Frontal bossing Macrocephaly Ptosis Prominent forehead Inguinal hernia Failure to thrive Abnormal facial shape Oligodontia Intrauterine growth retardation High palate Delayed skeletal maturation Hypodontia Fine hair Hyperhidrosis Ectodermal dysplasia Midface retrusion Thin vermilion border Hydrocephalus Dental malocclusion Hyperkeratosis Proptosis Cryptorchidism Relative macrocephaly Muscular hypotonia Delayed speech and language development Short palm Cleft palate Finger syndactyly Abnormality of the skin Nystagmus Gastroesophageal reflux Nail dysplasia Postnatal growth retardation Narrow mouth Microdontia Hoarse voice Posteriorly rotated ears Feeding difficulties Anteverted nares Nail dystrophy Carious teeth Sensorineural hearing impairment Insulin resistance Abnormality of dental morphology Short nose Hypoplastic nipples Joint hyperflexibility Ventricular septal defect Abnormality of dental enamel Wide nasal bridge Progeroid facial appearance Syndactyly Clinodactyly of the 5th finger Prominent nasal bridge Camptodactyly Clinodactyly Thick vermilion border

Rare Symptoms - Less than 30% cases


Arnold-Chiari malformation Hiatus hernia Seizures Increased body weight Hypoplasia of the iris Congenital hip dislocation Reduced subcutaneous adipose tissue Nephrocalcinosis Aplasia/Hypoplasia of the eyebrow Hyperglycemia Coarse hair Premature skin wrinkling Depressed nasal bridge Downslanted palpebral fissures Patent ductus arteriosus Intellectual disability, severe Aplasia/Hypoplasia of the skin Umbilical hernia High, narrow palate Large fontanelles Hypoplasia of dental enamel Abnormality of the skeletal system Increased intracranial pressure Anteriorly placed anus Coloboma Sparse and thin eyebrow Intestinal malrotation Epicanthus Ventriculomegaly Atrial septal defect Iris coloboma Abnormality of cardiovascular system morphology Hypoglycemia Abnormality of the pinna Absent speech Smooth philtrum Hyperpigmentation of the skin Brachycephaly Hyperactivity Thin upper lip vermilion Attention deficit hyperactivity disorder Abnormality of the foot Facial asymmetry Long face Mandibular prognathia Polydactyly Convex nasal ridge Dental crowding Coarctation of aorta Abnormality of digit Short neck Agenesis of corpus callosum Broad forehead High forehead Microcornea Delayed cranial suture closure Diabetes mellitus Severe short stature Abnormal heart morphology Malar flattening Myopia Split hand Abnormality of the face Narrow nose Abnormality of the nail Lipoatrophy Long nose Freckling Eczema Ectrodactyly Short distal phalanx of finger Absent nipple Scarring Retrognathia Osteopenia Nasolacrimal duct obstruction Kyphoscoliosis Osteoporosis Microphthalmia Lacrimal duct stenosis Flexion contracture Sparse scalp hair Split foot Dry skin Corneal opacity Telecanthus Toe syndactyly Joint hypermobility Downturned corners of mouth Wide intermamillary distance Weight loss Furrowed tongue Bilateral conductive hearing impairment Ketoacidosis Ovarian cyst Thick nail Long penis Slow-growing hair Hypocholesterolemia Advanced eruption of teeth Ovoid vertebral bodies Recurrent infections Peripheral pulmonary artery stenosis Bell-shaped thorax Growth hormone excess Abnormality of the thyroid gland Hypohidrotic ectodermal dysplasia Metatarsus adductus Neonatal respiratory distress Clitoral hypertrophy Thickened helices Sparse eyebrow Precocious puberty Diastema Broad eyebrow Abnormality of the upper urinary tract Onychauxis Soft skin Anodontia Abdominal pain Obesity Blindness Heat intolerance Dysphagia Optic atrophy Cognitive impairment Neoplasm Long palm Abnormality of the abdominal wall Laryngeal stridor Redundant neck skin Abnormality of refraction Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Anterior hypopituitarism Macrodontia Polycystic ovaries Anhidrotic ectodermal dysplasia Poor suck Narrow palate Abnormality of the outer ear Proteinuria Loose anagen hair Calcinosis Broad fingertip Abnormality of the nasal bridge Blepharophimosis Motor delay Hyperlordosis Feeding difficulties in infancy Abnormality of the kidney Muscular hypotonia of the trunk Abnormality of the nervous system Astigmatism Aplasia/Hypoplasia of the clavicles Neonatal hypotonia Peripheral neuropathy Conductive hearing impairment Generalized lipodystrophy Pes planus Coarse facial features Respiratory distress Upslanted palpebral fissure Constipation Osteolytic defects of the distal phalanges of the hand Hyperlipidemia Abnormal location of ears Acanthosis nigricans Abdominal distention Hypoplasia of the corpus callosum Generalized hirsutism Narrow face Preauricular skin tag Abnormality of the pulmonary artery Wide anterior fontanel Hypertrichosis Epidermal acanthosis Optic disc pallor Dehydration Everted upper lip vermilion Single transverse palmar crease Superior pectus carinatum Periorbital wrinkles Periorbital hyperpigmentation Hydronephrosis Postaxial polydactyly Dermal translucency Delayed puberty Acroosteolysis of distal phalanges (feet) Abnormality of the intervertebral disk Abnormality of the hair Hirsutism Osteolysis Reduced visual acuity Anhidrosis Cleft lip Acute hepatic failure Verrucae Ulcerative colitis Abnormality of the pulmonary vasculature Abnormal adipose tissue morphology Lower limb asymmetry Bifid ureter Ectopia cordis Linear hyperpigmentation Hypoplastic pelvis Cholesteatoma Duodenal atresia Apocrine hidrocystoma Diastasis recti Labial hypoplasia Giant cell tumor of bone Midclavicular hypoplasia Truncus arteriosus Enlarged cisterna magna Midclavicular aplasia Myelomeningocele Stenosis of the external auditory canal Hypertension Aplasia/Hypoplasia of the lungs Everted lower lip vermilion Foot polydactyly Depressed nasal ridge Abnormality of the larynx Cholangitis Aniridia Absent toenail Ridged fingernail Absence of the sacrum Patchy alopecia Abnormal palmar dermatoglyphics Abnormality of the mediastinum Upper limb asymmetry Cleft ala nasi Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Osteopathia striata Hypoplasia of teeth Clitoral hypoplasia Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Nonproductive cough Hand oligodactyly Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypohidrosis Short clavicles Erythema Short metacarpal Short ribs Spina bifida Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Subcutaneous nodule Omphalocele Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Postaxial hand polydactyly Overgrowth Broad nasal tip Horseshoe kidney Absent eyebrow Abnormality of skin pigmentation Cleft upper lip Caudal appendage Pruritus Papule Microtia Agenesis of permanent teeth Sparse body hair Cough Camptodactyly of finger Abnormal cardiac septum morphology Pointed chin Multicystic kidney dysplasia Type I diabetes mellitus Hypermelanotic macule Oligodactyly Sparse eyelashes Facial cleft Aplasia cutis congenita Telangiectasia of the skin Narrow nasal bridge Vertebral fusion Colitis Palmoplantar hyperkeratosis Macule Mixed hearing impairment Short finger Supernumerary nipple Spina bifida occulta Open bite Mild short stature Anophthalmia Stridor Chorioretinal coloboma Ectropion Ectopia lentis Hand polydactyly Brittle hair Short metatarsal Reduced number of teeth Recurrent skin infections Renal hypoplasia/aplasia Abnormality of the testis Aplastic clavicle Abnormally large globe Abnormality of the zygomatic bone Poor speech Abnormality of the cerebral white matter Short philtrum Aggressive behavior Anxiety Autism Long philtrum Behavioral abnormality Talipes equinovarus Hyperreflexia Spasticity Hypoplastic facial bones Arachnodactyly Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Increased intraocular pressure Posterior embryotoxon Insulin-resistant diabetes mellitus Talipes Bulbous nose Poor appetite Tented upper lip vermilion Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Restlessness Myopathic facies Bilateral talipes equinovarus Overlapping toe Drooling Thick eyebrow Microretrognathia Long eyelashes Broad thumb Broad-based gait Hemiparesis Short palpebral fissure Intellectual disability, profound Decreased testicular size Febrile seizures Prominent nose Sleep disturbance Wide nose Megalocornea Abnormality of the immune system Pes valgus Toenail dysplasia Hypoplasia of the maxilla Recurrent fractures Hypermetropia Edema Respiratory insufficiency Adermatoglyphia Premature loss of permanent teeth Conical incisor Lacrimal duct atresia Nail pits Fingernail dysplasia Breast hypoplasia Wormian bones Sparse axillary hair Generalized hypopigmentation Fair hair Alopecia of scalp Melanocytic nevus Conjunctivitis Finger clinodactyly Skin ulcer Inflammatory abnormality of the skin Cutaneous photosensitivity Oral cleft Anal atresia Hypotelorism Growth abnormality Congenital glaucoma Small for gestational age Glucose intolerance Radial deviation of finger Lipodystrophy Prominent supraorbital ridges Opacification of the corneal stroma Short chin Decreased body weight Bilateral sensorineural hearing impairment Underdeveloped nasal alae Triangular face Hip dislocation Neurological speech impairment Deeply set eye Cachexia Glaucoma Depressivity Cataract Thin calvarium Narrow philtrum Increased thyroid-stimulating hormone level Osteolytic defects of the phalanges of the hand Shallow orbits Striae distensae Slender long bone Flat occiput Pterygium Overbite Happy demeanor Hypomagnesemia Progressive sclerosis of skull base Pulmonic stenosis Dolichocephaly Pectus carinatum Craniosynostosis Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Hypothyroidism Pectus excavatum Vomiting Cardiomyopathy Stiff finger Lumbar kyphoscoliosis Webbed neck Exodeviation Facial hyperostosis Prominent scalp veins Proximal symphalangism of hands Proximal symphalangism Broad clavicles Calvarial hyperostosis Absent axillary hair Abnormality of the penis Elbow ankylosis Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the middle phalanges of the hand Ichthyosis Growth hormone deficiency Cranial hyperostosis Patent foramen ovale Fragile nails Abnormality of the elbow Broad neck Arnold-Chiari type I malformation Atopic dermatitis Natal tooth Neurodevelopmental delay Abnormality of coagulation Right bundle branch block Hypoplastic toenails Overfolded helix Failure to thrive in infancy Nasal speech Dandy-Walker malformation Deep philtrum Optic nerve hypoplasia Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Cafe-au-lait spot Mitral regurgitation Thick lower lip vermilion Low posterior hairline Ventricular hypertrophy Cyanosis Hyperconvex fingernails Sclerosis of skull base Toe clinodactyly Facial palsy Knee flexion contracture Elbow flexion contracture Increased bone mineral density Short toe Abnormality of the metaphysis Choanal atresia Specific learning disability Hip dysplasia Limitation of joint mobility Bifid uvula Macroglossia Wide mouth Intellectual disability, moderate Cutaneous syndactyly Cerebral cortical atrophy Hypogonadism Hypospadias Kyphosis Intellectual disability, mild Narrow jaw Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Cutis laxa Abnormality of the metacarpal bones Delayed eruption of permanent teeth Hypoplastic fingernail Abnormal nasolacrimal system morphology Humeroradial synostosis Epispadias Diaphyseal thickening Chordee Femoral hernia Hyperextensibility of the finger joints Generalized osteosclerosis Symphalangism affecting the phalanges of the hand Abnormal cortical bone morphology Prominent superficial veins Broad ribs Choanal stenosis Redundant skin Abnormality of finger Osteopetrosis Microglossia Submucous cleft hard palate Thickened calvaria Absent septum pellucidum Limited elbow extension External genital hypoplasia Flared metaphysis Short middle phalanx of finger Cutis marmorata Hyperostosis Abnormality of the fingertips



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