Brachydactyly, and Delayed puberty
Diseases related with Brachydactyly and Delayed puberty
In the following list you will find some of the most common rare diseases related to Brachydactyly and Delayed puberty that can help you solving undiagnosed cases.
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Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.
LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance
Related symptoms:
- Intellectual disability
- Micrognathia
- Abnormal facial shape
- Motor delay
- Brachydactyly
SOURCES:
ORPHANET
MENDELIAN
More info about LARON SYNDROME
Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.
INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a
Related symptoms:
- Intellectual disability
- Hypertelorism
- Brachydactyly
- Abnormality of the dentition
- Intellectual disability, mild
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about INSULIN-RESISTANCE SYNDROME TYPE A
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Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about POTOCKI-SHAFFER SYNDROME
Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.
NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic
Related symptoms:
- Short stature
- Scoliosis
- Growth delay
- Pain
- Brachydactyly
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about NEUROECTODERMAL-ENDOCRINE SYNDROME
Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).
AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
SOURCES:
OMIM
MENDELIAN
More info about AARSKOG-SCOTT SYNDROME; AAS
X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.
X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
SOURCES:
ORPHANET
MENDELIAN
More info about SMITH-MAGENIS SYNDROME
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2
Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about GENITOPATELLAR SYNDROME
Top 5 symptoms//phenotypes associated to Brachydactyly and Delayed puberty
Symptoms // Phenotype |
% cases |
Intellectual disability |
Very Common - Between 80% and 100% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Seizures |
Common - Between 50% and 80% cases
|
Abnormal facial shape |
Common - Between 50% and 80% cases
|
Micrognathia |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Brachydactyly and Delayed puberty. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Obesity
Uncommon Symptoms - Between 30% and 50% cases
Scoliosis
Muscular hypotonia
Growth delay
Hypertelorism
Microcephaly
Joint laxity
Hearing impairment
Wide nasal bridge
Ventriculomegaly
Cleft palate
Downslanted palpebral fissures
Delayed speech and language development
High forehead
Short palm
Global developmental delay
Delayed skeletal maturation
Prominent nose
Short philtrum
Hypothyroidism
Depressed nasal bridge
Severe short stature
Micropenis
Failure to thrive
Syndactyly
Generalized hypotonia
Short nose
Behavioral abnormality
Deeply set eye
Growth hormone deficiency
Joint hyperflexibility
Motor delay
Strabismus
Joint hypermobility
Cryptorchidism
Short foot
Truncal obesity
Osteoarthritis
Gait disturbance
Intellectual disability, mild
Delayed eruption of teeth
Abnormality of cardiovascular system morphology
Pes planus
Hypercholesterolemia
Mandibular prognathia
Hypoplasia of penis
Rare Symptoms - Less than 30% cases
Abnormality of the skeletal system
Kyphosis
Alopecia
Myopia
Inguinal hernia
Abnormal heart morphology
Epicanthus
Hypertension
Anemia
Ptosis
Short neck
Sensorineural hearing impairment
Pain
Self-injurious behavior
Brachycephaly
Downturned corners of mouth
Ventricular septal defect
Polymicrogyria
Abnormality of the genital system
Flexion contracture
Exostoses
Upslanted palpebral fissure
Single transverse palmar crease
Broad forehead
Hyperactivity
Prominent nasal bridge
Anteverted nares
Attention deficit hyperactivity disorder
Conductive hearing impairment
Joint stiffness
Gastroesophageal reflux
Cleft upper lip
Multiple exostoses
Talipes
Genu valgum
Beaking of vertebral bodies
Abnormality of the dentition
Insulin-resistant diabetes mellitus
Genu recurvatum
Increased number of teeth
Hyperinsulinemia
Intellectual disability, severe
Acanthosis nigricans
EEG abnormality
Long philtrum
Hypoplasia of the odontoid process
Coarse facial features
Hypospadias
Clinodactyly of the 5th finger
Talipes equinovarus
Type II diabetes mellitus
Narrow forehead
Macroglossia
Macrotia
Hypoplastic nasal bridge
Gynecomastia
Toe syndactyly
Short toe
Hypoglycemia
Microdontia
Blue sclerae
Depressed nasal ridge
Recurrent urinary tract infections
Sparse scalp hair
Short long bone
Hypohidrosis
Ectodermal dysplasia
Aplasia/Hypoplasia involving the nose
Reduced number of teeth
High pitched voice
Prematurely aged appearance
Underdeveloped supraorbital ridges
Abnormality of the elbow
Neurological speech impairment
Synophrys
Intrauterine growth retardation
Cognitive impairment
Bulbous nose
Hypertriglyceridemia
Taurodontia
Aplasia/Hypoplasia of the corpus callosum
Microcornea
Open mouth
Abnormal form of the vertebral bodies
Sleep disturbance
Retinal detachment
Stereotypy
Hoarse voice
Renal hypoplasia/aplasia
Anxiety
Tented upper lip vermilion
Precocious puberty
Failure to thrive in infancy
Hand polydactyly
Chronic otitis media
Feeding difficulties in infancy
Impaired pain sensation
Decreased fetal movement
Abnormality of the ureter
Panhypopituitarism
Constipation
Narrow palpebral fissure
Cortical dysplasia
Open bite
Large hands
Cubitus valgus
Cachexia
Relative macrocephaly
Sandal gap
Short thumb
Abnormality of the musculature
Broad-based gait
Thick lower lip vermilion
Intention tremor
Interphalangeal joint contracture of finger
Decreased testicular size
Memory impairment
Small hand
Cortical gyral simplification
Cerebellar vermis atrophy
Hyporeflexia
Abnormality of earlobe
Midface retrusion
Frontal bossing
Peripheral neuropathy
Abnormality of toe
Moderately short stature
Mood swings
Small earlobe
Abdominal obesity
Biparietal narrowing
Large face
Tics
Abnormal hair pattern
Distal lower limb amyotrophy
Down-sloping shoulders
Scaphocephaly
Restlessness
Striae distensae
Abnormal localization of kidney
Hydrometrocolpos
Delayed eruption of primary teeth
Heterotopia
Radioulnar synostosis
Laryngomalacia
Abnormality of the genitourinary system
Scrotal hypoplasia
Intellectual disability, progressive
Multicystic kidney dysplasia
Knee flexion contracture
Congenital hip dislocation
Short phalanx of finger
Fine hair
Bilateral talipes equinovarus
Full cheeks
Wide nose
Pulmonary hypoplasia
Arthrogryposis multiplex congenita
Severe global developmental delay
Abnormality of the kidney
Apnea
Hydronephrosis
Kyphoscoliosis
Clitoral hypertrophy
Ectopic kidney
Osteoporosis
Hypoplastic ischia
Scrotal hypospadias
Enlarged labia minora
Absent scrotum
Small scrotum
Tongue thrusting
Abnormal bone structure
Periventricular gray matter heterotopia
Talipes calcaneovalgus
Clitoral hypoplasia
Calcaneovalgus deformity
Anteriorly placed anus
Primary hypothyroidism
Patellar hypoplasia
Colpocephaly
Labial hypoplasia
Patellar aplasia
Hypoplastic ilia
Hypoplastic labia majora
Short columella
Patellar dislocation
Hip contracture
Polyhydramnios
Agenesis of corpus callosum
Hyperacusis
Vesicoureteral reflux
Deep philtrum
Recurrent upper respiratory tract infections
Abnormal palate morphology
Scapular winging
Joint dislocation
Bilateral single transverse palmar creases
Bone pain
Exotropia
Hip dysplasia
Nevus
Preaxial polydactyly
Thick eyebrow
Finger syndactyly
Stroke
Sparse hair
Protruding ear
Low-set, posteriorly rotated ears
Thin upper lip vermilion
Polydactyly
Corticospinal tract hypoplasia
Abnormal tracheobronchial morphology
Redundant skin
Cone-shaped epiphysis
Patent ductus arteriosus
Persistent cloaca
Edema
Atrial septal defect
Dysphagia
Feeding difficulties
Low-set ears
Redundant skin in infancy
Multiple long-bone exostoses
Scapular exostoses
Rib exostoses
Mild postnatal growth retardation
Cone-shaped epiphyses of the phalanges of the hand
Aplasia/Hypoplasia of the mandible
Absent toe
Blepharophimosis
Prune belly
Thick nasal alae
Vaginal atresia
Avascular necrosis of the capital femoral epiphysis
Oligospermia
Fragile nails
Spinal cord compression
Camptodactyly of finger
Camptodactyly
Wide mouth
Decreased skull ossification
Arthralgia
Skeletal dysplasia
Osteopenia
Cutaneous syndactyly between fingers 2 and 5
Parietal foramina
Congenital ptosis
Craniofacial dysostosis
Sparse lateral eyebrow
Depressed nasal tip
Hyperlordosis
Turricephaly
Aniridia
Nephroblastoma
Sparse eyebrow
Cutaneous syndactyly
Wormian bones
Underdeveloped nasal alae
Broad nasal tip
Arthritis
Platyspondyly
Telecanthus
Rhizomelia
Rickets
Scaling skin
Metaphyseal widening
Epiphyseal dysplasia
Genu varum
Disproportionate short-limb short stature
Hypogonadotrophic hypogonadism
Abnormal vertebral morphology
Abnormality of epiphysis morphology
Micromelia
Abnormality of the metaphysis
Lumbar hyperlordosis
Bilateral sensorineural hearing impairment
Limb undergrowth
Waddling gait
Short metacarpal
Sensory neuropathy
Short distal phalanx of finger
Autistic behavior
Autism
Spondyloepiphyseal dysplasia
Subcutaneous nodule
Prolactin excess
Ketoacidosis
Growth hormone excess
Generalized hyperpigmentation
Polycystic ovaries
Accelerated skeletal maturation
Generalized hirsutism
Insulin resistance
Hypertrichosis
Menstrual irregularities
Epidermal acanthosis
Muscle cramps
Hirsutism
Carious teeth
Hyperkeratosis
Diabetes mellitus
Abnormality of the endocrine system
Abnormality of the skull
Macroorchidism
Generalized hypertrichosis
Cataract
Increased body weight
Nystagmus
Lymphoid interstitial pneumonia
Delayed menarche
Immune dysregulation
Concave nasal ridge
Proportionate short stature
External genital hypoplasia
Keratitis
Lymphopenia
Neoplasm
Chronic diarrhea
Abnormal lung morphology
Eczema
Progressive visual loss
Prominent forehead
Pneumonia
Recurrent infections
Diarrhea
Respiratory distress
Metaphyseal irregularity
Bowing of the legs
Abnormality of the pinna
Mild short stature
Large earlobe
Widow's peak
Short 5th finger
Broad foot
Shawl scrotum
Macrocytic anemia
Broad palm
Interstitial pulmonary abnormality
Radial deviation of finger
Broad philtrum
Increased intracranial pressure
Lymphedema
Generalized-onset seizure
Round face
Hypoplasia of the maxilla
Hypodontia
Cirrhosis
Pulmonic stenosis
Volvulus
Hyperextensibility of the finger joints
Umbilical hernia
Hypertonia
Intellectual disability, moderate
Aggressive behavior
Gait ataxia
Hypogonadism
Hyperhidrosis
Pes cavus
Absent speech
Immunodeficiency
Hypoplasia of the corpus callosum
Osteochondritis Dissecans
Tremor
Macrocephaly
Skeletal muscle atrophy
High palate
Cervical spine hypermobility
Curved linear dimple below the lower lip
Increased upper to lower segment ratio
Prominent umbilicus
Frontoparietal polymicrogyria
Hypermetropia
Abdominal pain
Flared metaphysis
Enlarged joints
Carpal bone hypoplasia
Myelopathy
Ulnar deviation of the hand
Decreased serum estradiol
Small epiphyses
Irregular epiphyses
Decreased serum testosterone level
Intestinal polyposis
Multiple epiphyseal dysplasia
Decreased testosterone in males
Delayed epiphyseal ossification
Upper limb undergrowth
Spinal canal stenosis
Abnormal joint morphology
Metaphyseal dysplasia
Disproportionate short stature
Abnormality of the hip bone
Limited elbow extension
Hamartomatous polyposis
Atlantoaxial dislocation
Clinodactyly
Radial metaphyseal irregularity
Pectus excavatum
Depressivity
Hernia
Hepatomegaly
Small epiphyses of the phalanges of the hand
Spatulate ribs
Fragmented, irregular epiphyses
Ulnar metaphyseal irregularity
Fragmented epiphyses
Ulnar deviation of the wrist
Lumbar spinal canal stenosis
Childhood onset short-limb short stature
Limited hip extension
Irregular carpal bones
Flared femoral metaphysis
Cervical cord compression
Cervical instability
Premature osteoarthritis
Cervical myelopathy
Hypoplastic inferior pubic rami
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Feeding difficulties and Single transverse palmar crease, related diseases and genetic alterations
Macrocephaly and Ascites, related diseases and genetic alterations
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